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| All | |
| Abnormality of body height | |
| Multicystic kidney dysplasia | |
| Mode of inheritance | |
| Autosomal dominant inheritance | |
| Autosomal recessive inheritance | |
| Abnormality of female internal genitalia | |
| Functional abnormality of the bladder | |
| Recurrent urinary tract infections | |
| Neurogenic bladder | |
| Urinary urgency | |
| Hypoplasia of the uterus | |
| Abnormality of the bladder | |
| Bladder diverticulum | |
| Urinary retention | |
| Nocturia | |
| Urinary hesitancy | |
| Urinary incontinence | |
| Megacystis | |
| Abnormality of male internal genitalia | |
| Inguinal hernia | |
| Prostatitis | |
| Functional abnormality of male internal genitalia | |
| Male hypogonadism | |
| Azoospermia | |
| Cryptorchidism | |
| Testicular atrophy | |
| Testicular gonadoblastoma | |
| Epididymitis | |
| Abnormality of male external genitalia | |
| Ambiguous genitalia, male | |
| Hydrocele testis | |
| Abnormality of the testis | |
| Abnormality of the penis | |
| Male pseudohermaphroditism | |
| Epispadias | |
| Enlarged penis | |
| Chordee | |
| Absent external genitalia | |
| Hypogonadotrophic hypogonadism | |
| Abnormality of the scrotum | |
| Scrotal hypoplasia | |
| Hypospadias | |
| Bifid scrotum | |
| Shawl scrotum | |
| Hypoplastic male external genitalia | |
| Perineal hypospadias | |
| Urethral atresia, male | |
| Macroorchidism | |
| Micropenis | |
| Abnormality of female external genitalia | |
| Abnormality of the clitoris | |
| Clitoromegaly | |
| Abnormality of the labia | |
| Hypoplastic labia majora | |
| Clitoral hypoplasia | |
| Ambiguous genitalia, female | |
| Ambiguous genitalia | |
| Fused labia minora | |
| Hypoplastic labia minora | |
| Labial hypertrophy | |
| Labial hypoplasia | |
| Urethral atresia, female | |
| Urethral atresia | |
| Abnormality of the ureter | |
| Ureterocele | |
| Ureteral stenosis | |
| Hydroureter | |
| Ureteral duplication | |
| Ureteropelvic junction obstruction | |
| Renal duplication | |
| Vesicoureteral reflux | |
| Abnormality of the kidney | |
| Abnormality of the genital system | |
| Abnormality of the urinary system | |
| Abnormality of reproductive system physiology | |
| Duplicated collecting system | |
| Renal insufficiency | |
| Horseshoe kidney | |
| Ectopic kidney | |
| Renal hypoplasia | |
| Nephronophthisis | |
| Abnormality of the renal tubule | |
| Tubular atrophy | |
| Proteinuria | |
| Abnormality of the glomerulus | |
| Glomerulosclerosis | |
| Focal segmental glomerulosclerosis | |
| Tall stature | |
| Glomerulonephritis | |
| Nephrotic syndrome | |
| Polyuria | |
| Renal agenesis | |
| Enlarged kidneys | |
| Renal cyst | |
| Renal corticomedullary cysts | |
| Renal dysplasia | |
| Renal juxtaglomerular cell hypertrophy/hyperplasia | |
| Nephropathy | |
| Polycystic kidney dysplasia | |
| Proximal tubulopathy | |
| Renal phosphate wasting | |
| Phenotypic abnormality | |
| Abnormality of the genitourinary system | |
| Nephrocalcinosis | |
| Unilateral renal agenesis | |
| Nephritis | |
| Renal tubular dysfunction | |
| Pelvic kidney | |
| Hydronephrosis | |
| Renal salt wasting | |
| Renal potassium wasting | |
| Abnormality of the uterus | |
| Uterine leiomyoma | |
| Menorrhagia | |
| Gonadal dysgenesis | |
| Female hypogonadism | |
| Hypogonadism | |
| Bifid uterus | |
| Abnormality of the ovary | |
| Ovarian cyst | |
| Uterine prolapse | |
| Abnormality of the menstrual cycle | |
| Amenorrhea | |
| Abnormality of the vagina | |
| Rectovaginal fistula | |
| Decreased fertility | |
| Transverse vaginal septum | |
| Polycystic ovaries | |
| Vaginal atresia | |
| Ovarian gonadoblastoma | |
| Gonadoblastoma | |
| Aplasia of the uterus | |
| Abnormality of head or neck | |
| Abnormality of the mouth | |
| Wide mouth | |
| Oral ulcer | |
| Abnormality of the tongue | |
| Macroglossia | |
| Abnormality of the lip | |
| Narrow mouth | |
| Median cleft lip | |
| Glossoptosis | |
| Abnormality of the oral cavity | |
| Abnormality of the teeth | |
| Severe periodontitis | |
| Abnormality of the gingiva | |
| Gingival fibromatosis | |
| Microglossia | |
| Abnormality of the uvula | |
| Abnormality of the palate | |
| Cleft palate | |
| Submucous cleft hard palate | |
| Abnormality of upper lip | |
| Abnormality of lower lip | |
| Thick lower lip vermilion | |
| Lobulated tongue | |
| Movement abnormality of the tongue | |
| Difficulty in tongue movements | |
| Cleft soft palate | |
| Broad alveolar ridges | |
| Short upper lip | |
| Narrow palate | |
| Abnormality of oral frenula | |
| Accessory oral frenulum | |
| Bifid uvula | |
| Open mouth | |
| Lower lip pit | |
| Abnormality of parotid gland | |
| Absence of Stensen duct | |
| Tongue nodules | |
| Short lingual frenulum | |
| Pierre-Robin sequence | |
| Oral cleft | |
| Cleft upper lip | |
| Pursed lips | |
| Glossitis | |
| Triangular mouth | |
| Trismus | |
| Gingival overgrowth | |
| Lip telangiectasia | |
| Thick upper lip vermilion | |
| Broad secondary alveolar ridge | |
| Xerostomia | |
| High palate | |
| Thin upper lip vermilion | |
| Velopharyngeal insufficiency | |
| Furrowed tongue | |
| Gingival hyperkeratosis | |
| Abnormality of taste sensation | |
| Decreased taste sensation | |
| Gingival bleeding | |
| Tongue telangiectasia | |
| Oral cavity teleangiectasia | |
| Gingivitis | |
| Everted lower lip vermilion | |
| Thin vermilion border | |
| Abnormality of the head | |
| Abnormality of the fontanelles or cranial sutures | |
| Abnormality of the anterior fontanelle | |
| Small anterior fontanelle | |
| Hydrocephalus | |
| Large fontanelles | |
| Abnormality of skull size | |
| Parietal bossing | |
| Trigonocephaly | |
| Brachyturricephaly | |
| Abnormality of the sinuses | |
| Sinusitis | |
| Brachycephaly | |
| Dense calvaria | |
| Microcephaly | |
| Progressive microcephaly | |
| Acute sinusitis | |
| Macrocephaly | |
| Wide anterior fontanel | |
| Turricephaly | |
| Oxycephaly | |
| Abnormality of the mastoid | |
| Mastoiditis | |
| Cranial asymmetry | |
| Dolichocephaly | |
| Prominent occiput | |
| Delayed cranial suture closure | |
| Abnormality of the face | |
| Malar flattening | |
| Facial grimacing | |
| Small face | |
| Narrow face | |
| Long face | |
| Abnormality of the mandible | |
| Retrognathia | |
| Coarse facial features | |
| Facial edema | |
| Broad face | |
| Abnormality of the ocular region | |
| Epicanthus | |
| Increased facial adipose tissue | |
| Abnormality of the philtrum | |
| Broad philtrum | |
| Abnormality of the forehead | |
| Abnormality of facial adipose tissue | |
| Loss of facial adipose tissue | |
| Full cheeks | |
| Low anterior hairline | |
| Doll-like facies | |
| Facial hypotonia | |
| Mask-like facies | |
| Oval face | |
| Abnormality of facial musculature | |
| Mandibular prognathia | |
| Abnormality of the chin | |
| Pointed chin | |
| Microretrognathia | |
| Abnormality of the midface | |
| Round face | |
| Abnormality of the orbital region | |
| Hypertelorism | |
| Facial myokymia | |
| Smooth philtrum | |
| Bird-like facies | |
| Square face | |
| Short philtrum | |
| Facial asymmetry | |
| Triangular face | |
| Abnormality of the maxilla | |
| Hypoplasia of the maxilla | |
| Facial hemangioma | |
| Short chin | |
| Prominent supraorbital ridges | |
| Broad forehead | |
| Hypomimic face | |
| Pugilistic facies | |
| Sloping forehead | |
| Narrow forehead | |
| Long philtrum | |
| Whistling appearance | |
| Micrognathia | |
| High forehead | |
| Widow's peak | |
| Small forehead | |
| Abnormality of the outer ear | |
| Abnormal location of ears | |
| Posteriorly rotated ears | |
| Abnormality of the inner ear | |
| Tinnitus | |
| Pulsatile tinnitus (tympanic paraganglioma) | |
| Otosclerosis | |
| Abnormality of earlobe | |
| Hearing abnormality | |
| Hearing impairment | |
| Abnormality of the nose | |
| Low-set, posteriorly rotated ears | |
| Low-set ears | |
| Abnormality of the middle ear | |
| Acute otitis media | |
| Abnormality of the auditory canal | |
| Abnormality of cochlea | |
| Incomplete partition of the cochlea type II | |
| Abnormality of the pinna | |
| Cupped ear | |
| Stapes ankylosis | |
| Abnormality of periauricular region | |
| Preauricular skin tag | |
| Small earlobe | |
| Absent earlobe | |
| Otitis media | |
| Chronic otitis media | |
| Thickened helices | |
| Lop ear | |
| Prominent antihelix | |
| Overfolded helix | |
| Prelingual sensorineural hearing impairment | |
| Macrotia | |
| Stenosis of the external auditory canal | |
| Recurrent otitis media | |
| Conductive hearing impairment | |
| Sensorineural hearing impairment | |
| Progressive sensorineural hearing impairment | |
| Mixed hearing impairment | |
| Protruding ear | |
| Atresia of the external auditory canal | |
| Bulbous nose | |
| Abnormality of the choanae | |
| Slender nose | |
| Narrow nasal ridge | |
| Abnormality of the nasal septum | |
| Short nasal septum | |
| Epistaxis | |
| Abnormality of the nasal bridge | |
| Prominent nasal bridge | |
| Abnormality of the nasal alae | |
| Underdeveloped nasal alae | |
| Wide nasal bridge | |
| Abnormality of the nasal mucosa | |
| Nasal mucosa telangiectasia | |
| Abnormality of the nasal tip | |
| Depressed nasal tip | |
| Convex nasal ridge | |
| Wide nose | |
| Narrow nasal bridge | |
| Pear-shaped nose | |
| Prominent nose | |
| Triangular nasal tip | |
| Choanal stenosis | |
| Choanal atresia | |
| Flared nostrils | |
| Broad nasal tip | |
| Bifid nasal tip | |
| Depressed nasal ridge | |
| Anosmia | |
| Narrow nose | |
| Anteverted nares | |
| Abnormality of the neck | |
| Webbed neck | |
| Limited neck range of motion | |
| Neck muscle weakness | |
| Increased adipose tissue around the neck | |
| Short neck | |
| Gastrointestinal angiodysplasia | |
| Long neck | |
| Torticollis | |
| Thickened nuchal skin fold | |
| Broad neck | |
| Cystic hygroma | |
| Abnormality of the eye | |
| Abnormality of the retina | |
| Retinal coloboma | |
| Abnormality of the cornea | |
| Microcornea | |
| Astigmatism | |
| Hyperopic astigmatism | |
| Megalocornea | |
| Strabismus | |
| Congenital strabismus | |
| Retinopathy | |
| Abnormality of globe location or size | |
| Deeply set eye | |
| Keratitis | |
| Abnormality of the eyelid | |
| Abnormality of the fovea | |
| Downslanted palpebral fissures | |
| Recurrent corneal erosions | |
| Abnormality of eye movement | |
| Globe retraction and deviation on abduction | |
| Blepharitis | |
| Abnormality of the eyelashes | |
| Glaucoma | |
| Abnormality of the conjunctiva | |
| Tortuosity of conjunctival vessels | |
| Abnormality of vision | |
| Visual impairment | |
| Telecanthus | |
| Ptosis | |
| Conjunctivitis | |
| Retinitis pigmentosa | |
| Vertical supranuclear gaze palsy | |
| Abnormal electroretinogram | |
| Slow saccadic eye movements | |
| Abnormality of the lens | |
| Cataract | |
| Congenital cataract | |
| Proptosis | |
| Alacrima | |
| Subcapsular cataract | |
| Conjunctival telangiectasia | |
| Abnormality of the iris | |
| Aniridia | |
| Long eyelashes | |
| Anophthalmia | |
| Progressive visual loss | |
| Corneal crystals | |
| Chorioretinal abnormality | |
| Chorioretinal atrophy | |
| Abnormality of the eyebrow | |
| Sparse eyebrow | |
| Epicanthus inversus | |
| Pseudopapilledema | |
| Abnormality of refraction | |
| Hypermetropia | |
| Retinal detachment | |
| Impaired ocular adduction | |
| Optic disc pallor | |
| External ophthalmoplegia | |
| Myopia | |
| Retinal degeneration | |
| Tapetoretinal degeneration | |
| Cone-rod dystrophy | |
| Abnormal conjugate eye movement | |
| Abolished electroretinogram (ERG) | |
| Abnormality of color vision | |
| Tritanomaly | |
| Abnormality of the uvea | |
| Uveitis | |
| Leukocoria | |
| Retinal dystrophy | |
| Buphthalmos | |
| Rieger anomaly | |
| Corneal scarring | |
| Absent eyelashes | |
| Keratoconus | |
| Lacrimal duct atresia | |
| Esotropia | |
| Chorioretinal coloboma | |
| Microphthalmos | |
| Abnormality of saccadic eye movements | |
| Hypometric saccades | |
| Visual loss | |
| Retinal hemorrhage | |
| Thick eyebrow | |
| Scotoma | |
| Centrocecal scotoma | |
| Exotropia | |
| Nasolacrimal duct obstruction | |
| Pigmentary retinopathy | |
| Blepharophimosis | |
| Upslanted palpebral fissure | |
| Punctate corneal epithelial erosions | |
| Band keratopathy | |
| Shallow orbits | |
| Abnormality of the optic nerve | |
| Optic nerve coloboma | |
| Coloboma | |
| Progressive external ophthalmoplegia | |
| Abnormality of the sclera | |
| Blue sclerae | |
| Abnormality of the anterior chamber | |
| Shallow anterior chamber | |
| Ophthalmoparesis | |
| Abnormality of the ear | |
| Abnormality of the frontal hairline | |
| Abnormality of the pharynx | |
| Hypotelorism | |
| Ophthalmoplegia | |
| Central scotoma | |
| Supranuclear gaze palsy | |
| Abnormality of the periorbital region | |
| Periorbital wrinkles | |
| Macular degeneration | |
| Optic nerve hypoplasia | |
| Abnormality of the choroid | |
| Choroid coloboma | |
| Iris coloboma | |
| Photophobia | |
| Abnormality of the nasolacrimal system | |
| Abnormality of the pupil | |
| Miosis | |
| Abnormality of ocular smooth pursuit | |
| Blindness | |
| Impaired convergence | |
| Dacrocystitis | |
| Entropion | |
| Blurred vision | |
| Supranuclear ophthalmoplegia | |
| Cleft eyelid | |
| Posterior embryotoxon | |
| Periorbital fullness | |
| Abnormality of retinal arteries | |
| Retinal arterial tortuosity | |
| Lacrimation abnormality | |
| Decreased lacrimation | |
| Impaired ocular abduction | |
| Blue irides | |
| Upper eyelid coloboma | |
| Long palpebral fissure | |
| Nystagmus | |
| Gaze-evoked nystagmus | |
| Dysmetric saccades | |
| Red-green dyschromatopsia | |
| Blepharospasm | |
| Amblyopia | |
| Sclerocornea | |
| Optic atrophy | |
| Abnormality of vision evoked potentials | |
| Reduced amplitude of pattern visual evoked potentials | |
| Diplopia | |
| Lower eyelid coloboma | |
| Sparse eyelashes | |
| Decreased electroretinogram (ERG) amplitude | |
| Vitreoretinal degeneration | |
| Ectropion | |
| Oculomotor apraxia | |
| Eyelid apraxia | |
| Peters anomaly | |
| Lipemia retinalis | |
| Palpebral fissure narrowing on adduction | |
| Night blindness | |
| Synophrys | |
| Horizontal nystagmus | |
| Phthisis bulbi | |
| Hypodontia | |
| Carious teeth | |
| Anodontia | |
| Macrodontia of permanent maxillary central incisor | |
| Abnormality of the incisor | |
| Oligodontia | |
| Dental crowding | |
| Taurodontia | |
| Delayed eruption of primary teeth | |
| Abnormality of dental enamel | |
| Grayish enamel | |
| Delayed eruption of teeth | |
| Hypoplasia of teeth | |
| Widely spaced teeth | |
| Dental malocclusion | |
| Agenesis of maxillary lateral incisor | |
| Microdontia | |
| Misalignment of teeth | |
| Shell teeth | |
| Natal tooth | |
| Delayed eruption of permanent teeth | |
| Conical tooth | |
| Diastema | |
| Periapical radiolucency | |
| Dentinogenesis imperfecta | |
| Periodontitis | |
| Amelogenesis imperfecta | |
| Unerupted tooth | |
| Abnormality of the nervous system | |
| Behavioral abnormality | |
| Psychosis | |
| Hyperorality | |
| Restlessness | |
| Emotional lability | |
| Agitation | |
| Depression | |
| Autism | |
| Aggressive behavior | |
| Inappropriate behavior | |
| Mood swings | |
| Lack of spontaneous play | |
| Obsessive-compulsive behavior | |
| Restrictive behavior | |
| Psychotic episodes | |
| Dementia | |
| Frontal lobe dementia | |
| Impaired ability to form peer relationships | |
| Autistic behavior | |
| Inflexible adherence to routines or rituals | |
| Stereotypic behavior | |
| Disinhibition | |
| Impaired social interactions | |
| Short attention span | |
| Irritability | |
| Hallucinations | |
| Anxiety | |
| Anxiety (with pheochromocytoma) | |
| Apathy | |
| Self-mutilation | |
| Frontal release signs | |
| Low frustration tolerance | |
| Diminished motivation | |
| Delusions | |
| Inappropriate laughter | |
| Paroxysmal bursts of laughter | |
| Delayed speech and language development | |
| Personality changes | |
| Hyperactivity | |
| Autism with high cognitive abilities | |
| Agoraphobia | |
| Lack of insight | |
| Impaired use of nonverbal behaviors | |
| Abnormality of the peripheral nervous system | |
| Decreased nerve conduction velocity | |
| Sensory neuropathy | |
| Peripheral axonal degeneration | |
| Abnormality of the thorax | |
| Abnormality of the sternum | |
| Pectus excavatum | |
| Pectus carinatum | |
| Abnormality of the breast | |
| Gynecomastia | |
| Abnormality of the ribs | |
| Short ribs | |
| Narrow chest | |
| Abnormality of the diaphragm | |
| Congenital diaphragmatic hernia | |
| Abnormality of the thymus | |
| Hypoplasia of the thymus | |
| Abnormality of the scapula | |
| Primary amenorrhea | |
| Nephrolithiasis | |
| Infertility | |
| Hematuria | |
| Uric acid nephrolithiasis | |
| Membranoproliferative glomerulonephritis | |
| IgA deposition in the glomerulus | |
| Abnormality of the urethra | |
| Urethral obstruction | |
| Oligospermia | |
| Renal steatosis | |
| Cystic renal dysplasia | |
| Impotence | |
| Renal cortical cysts | |
| Xanthine nephrolithiasis | |
| Enuresis | |
| Glandular hypospadias | |
| Penoscrotal hypospadias | |
| Urinary tract atresia | |
| Abnormal external genitalia | |
| Abnormal internal genitalia | |
| Bicornuate uterus | |
| Hypergonadotropic hypogonadism | |
| Abnormality of Krebs cycle metabolism | |
| Poor eye contact | |
| Abnormality of the endocrine system | |
| Diabetes mellitus | |
| Abnormality of the thyroid gland | |
| Hypothyroidism | |
| Hypertension | |
| Delayed puberty | |
| Growth hormone deficiency | |
| Hyperinsulinemic hypoglycemia | |
| Precocious puberty | |
| Abnormality of the parathyroid gland | |
| Hypoparathyroidism | |
| Anterior hypopituitarism | |
| Insulin-resistant diabetes mellitus | |
| Primary hypothyroidism | |
| Glucose intolerance | |
| Abnormality of the adrenal glands | |
| Adrenal hypoplasia | |
| Hyperthyroidism | |
| Gonadotropin excess | |
| Pituitary dwarfism | |
| Adrenogenital syndrome | |
| Hyperactive renin-angiotensin system | |
| Hyperinsulinemia | |
| Hyperparathyroidism | |
| Growth hormone excess | |
| Adrenal insufficiency | |
| Abnormality of renin-angiotensin system | |
| Increased circulating renin level | |
| Adrenocortical abnormality | |
| Congenital hypothyroidism | |
| Pseudohypoparathyroidism | |
| Goiter | |
| Thyroid adenoma | |
| Insulin resistance | |
| Neonatal insulin-dependent diabetes mellitus | |
| Menstrual irregularities | |
| Hyperaldosteronism | |
| Parathyroid hypoplasia | |
| Central diabetes insipidus | |
| Abnormality of the hypothalamus-pituitary axis | |
| Euthyroid multinodular goiter | |
| Secondary hyperparathyroidism | |
| Decreased fertility in females | |
| Secondary amenorrhea | |
| Prolactin excess | |
| Panhypopituitarism | |
| Hashimoto thyroiditis | |
| Diabetes insipidus | |
| Episodic hypertension | |
| Oligomenorrhea | |
| Insulin-resistant diabetes mellitus at puberty | |
| 11 pairs of ribs | |
| Short sternum | |
| Hypoplastic scapulae | |
| Thin ribs | |
| Prominent sternum | |
| Broad ribs | |
| Deformed rib cage | |
| Cupped ribs | |
| Horizontal ribs | |
| Abnormality of the clavicles | |
| Long clavicles | |
| Cervical ribs | |
| Bifid ribs | |
| Bulging of the costochondral junction | |
| Short clavicles | |
| Hooked clavicles | |
| Rib exostoses | |
| Rachitic rosary | |
| Thickened ribs | |
| Rib fusion | |
| Flaring of rib cage | |
| Progressive clavicular acroosteolysis | |
| Anterior rib cupping | |
| Wide-cupped costochondral junctions | |
| Flat glenoid fossa | |
| Sprengel anomaly | |
| Posterior rib fusion | |
| Shield chest | |
| Pectus excavatum of inferior sternum | |
| Broad clavicles | |
| Superior pectus carinatum | |
| Scapular exostoses | |
| Abnormality of the costochondral junction | |
| Enlargement of the costochondral junction | |
| Missing ribs | |
| Posterior rib cupping | |
| Beaded ribs | |
| Abnormality of the skeletal system | |
| Abnormality of the vertebral column | |
| Platyspondyly | |
| Abnormality of skeletal maturation | |
| Abnormality of the skull | |
| Elevated imprint of the transverse sinuses | |
| Thinning and bulging of the posterior fossa bones | |
| Abnormality of the posterior cranial fossa | |
| Posterior fossa cyst at the fourth ventricle | |
| Chondrocalcinosis | |
| Thickened cortex of long bones | |
| Osteopenia | |
| Osteoporosis | |
| Abnormal diaphysis morphology | |
| Short diaphyses | |
| Dysostosis multiplex | |
| Abnormality of the metaphyses | |
| Flared irregular metaphyses | |
| Hypoplastic ilia | |
| Dumbbell-shaped long bone | |
| Abnormality of the skin | |
| Jaundice | |
| Hyperpigmentation of the skin | |
| Single transverse palmar crease | |
| Acanthosis nigricans | |
| Cafe-au-lait spot | |
| Dry skin | |
| Sacral dimple | |
| Cyanosis | |
| Hyperkeratosis | |
| Thin skin | |
| Eczema | |
| Cutis marmorata | |
| Hypohidrosis | |
| Petechiae | |
| Ectodermal dysplasia | |
| Edema | |
| Anhidrosis | |
| Abnormality of the sweat gland | |
| Palmoplantar hyperkeratosis | |
| Cutis laxa | |
| Hyperextensible skin | |
| Hyperhidrosis | |
| Eczematoid dermatitis | |
| Soft skin | |
| Bruising susceptibility | |
| Purpura | |
| Pallor | |
| Palmoplantar keratoderma | |
| Atypical scarring of skin | |
| Skin rash | |
| Pruritus | |
| Xanthomatosis | |
| Cutaneous photosensitivity | |
| Molluscoid pseudotumors | |
| Melanocytic nevus | |
| Facial capillary hemangioma | |
| Axillary freckling | |
| Hypertrichosis | |
| Pyoderma | |
| Abnormality of skin pigmentation | |
| Abnormality of subcutaneous fat tissue | |
| Decreased subcutaneous fat | |
| Multiple lentigines | |
| Lymphedema | |
| Dermatological manifestations of systemic disorders | |
| Hypotrichosis | |
| Hirsutism | |
| Accumulation of melanosomes in melanocytes | |
| Telangiectasia | |
| Hypopigmentation of the skin | |
| Diaphoresis (with pheochromocytoma) | |
| Multiple lipomas | |
| Eruptive xanthomas | |
| Angiokeratoma | |
| Prominent superficial veins | |
| Anemic pallor | |
| Abnormal palmar dermatoglyphics | |
| Erythroderma | |
| Albinism | |
| Skin dimple over apex of long bone angulation | |
| Urticaria | |
| Penetrating foot ulcers | |
| Soft, doughy skin | |
| Hemangioma | |
| Poikiloderma | |
| Fragile skin | |
| Subcutaneous lipoma | |
| Absent distal interphalangeal creases | |
| Facial flushing after alcohol intake | |
| Hypermelanotic macule | |
| Parakeratosis | |
| Warfarin-induced skin necrosis | |
| Atheroeruptive xanthoma | |
| Multiple pterygia | |
| Facial erythema | |
| High axial triradius | |
| Prominent scalp veins | |
| Vitiligo | |
| Intermittent jaundice | |
| Atopic dermatitis | |
| Cavernous hemangioma | |
| Absent dorsal skin creases over affected joints | |
| Plethora | |
| Seborrheic dermatitis | |
| Nevus flammeus | |
| Hypopigmented skin patches | |
| Numerous nevi | |
| Erysipelas | |
| Milia | |
| Aplasia cutis congenita | |
| Poor wound healing | |
| Pterygium | |
| Axillary pterygia | |
| Acne | |
| Atypical nevi (>5mm with irregular edge and pigmentation) | |
| Acrocyanosis | |
| Striae distensae | |
| Neurofibromas | |
| Episodic hyperhidrosis | |
| Mottled pigmentation | |
| Angiokeratoma corporis diffusum | |
| Thickened skin | |
| Cigarette-paper scars | |
| Atypical nevi in non-sun exposed areas | |
| Atrophic scars | |
| Glabellar hemangioma | |
| Biliary tract abnormality | |
| Cholelithiasis | |
| Cholecystitis | |
| Ectopia lentis | |
| Corneal arcus | |
| Papilledema | |
| Congenital glaucoma | |
| Brushfield spots | |
| Iris atrophy | |
| Large eyes | |
| Absent lacrimal punctum | |
| Optic nerve dysplasia | |
| Iridocyclitis | |
| Hypertensive retinopathy | |
| Keratoconjunctivitis | |
| Keratoconjunctivitis sicca | |
| Abnormality of the fundus | |
| Fundus atrophy | |
| Heterochromia iridis | |
| Iritis | |
| Angioid streaks of the retina | |
| Abnormality of the macula | |
| Macular hypoplasia | |
| Retinal atrophy | |
| Periorbital hyperpigmentation | |
| Ocular albinism | |
| Leber optic atrophy | |
| Early cataracts | |
| Xanthelasma | |
| Posterior polar cataract | |
| Macular coloboma | |
| Sudden central visual loss | |
| Juvenile cataract | |
| Keratoglobus | |
| Abnormality of corneal size | |
| Aplasia/Hypoplasia of the choroid | |
| Visual field defect | |
| Hemianopic blurring of vision | |
| Cryptophthalmos | |
| Trichiasis | |
| Large central visual field defect | |
| Corneal dystrophy | |
| Lens subluxation | |
| Constricted visual fields | |
| Anterior polar cataract | |
| Chorioretinal dystrophy | |
| Retinal arteriolar tortuosity | |
| Alternating esotropia | |
| Optic neuropathy | |
| Choroideremia | |
| Epibulbar dermoid | |
| Severe visual impairment | |
| Lenticonus | |
| Orbital cyst | |
| Chorioretinopathy | |
| Pigmentary retinal degeneration | |
| Retinal exudate | |
| Lattice corneal dystrophy | |
| Choroidal sclerosis | |
| Impaired horizontal smooth pursuit | |
| Saccadic smooth pursuit | |
| Septate vagina | |
| Abnormality of the hand | |
| Brachydactyly syndrome | |
| Syndactyly | |
| Hand polydactyly | |
| Postaxial hand polydactyly | |
| Abnormality of the metacarpal bones | |
| Arachnodactyly | |
| Abnormality of finger | |
| Broad palm | |
| Split hand | |
| Abnormality of the thumb | |
| Large hands | |
| Preaxial hand polydactyly | |
| Ulnar claw | |
| Oligodactyly (hands) | |
| Adducted thumb | |
| Tapered finger | |
| Hyperextensibility of the finger joints | |
| Hand clenching | |
| Abnormality of the carpal bones | |
| Ulnar deviation of the hand or of fingers of the hand | |
| Abnormalities of placenta or umbilical cord | |
| Single umbilical artery | |
| Short umbilical cord | |
| Abnormality of prenatal development or birth | |
| Triphalangeal thumb | |
| Distal symphalangism (hands) | |
| Abnormality of the fingertips | |
| Prominent fingertip pads | |
| Camptodactyly of 2nd-5th fingers | |
| Delayed ossification of carpal bones | |
| Clubbing | |
| Autoamputation | |
| Interphalangeal joint contracture of finger | |
| Spatulate thumbs | |
| Pointed proximal second through fifth metacarpals | |
| Wrist swelling | |
| Acral ulceration and osteomyelitis leading to autoamputation of digits | |
| Abnormality of the thenar eminence | |
| Broad metacarpals | |
| Abnormality of the fingernails | |
| Nail bed telangiectasia | |
| 2-3 finger syndactyly | |
| Hitchhiker thumb | |
| Slender finger | |
| Wrist flexion contracture | |
| Capitate-hamate fusion | |
| Small thenar eminence | |
| Short tubular bones (hand) | |
| Intellectual disability | |
| Seizures | |
| Ataxia | |
| Muscular hypotonia | |
| Lethargy | |
| Intellectual disability, mild | |
| Spasticity | |
| Spastic paraplegia | |
| Coma | |
| Dysarthria | |
| Somnolence | |
| Global developmental delay | |
| Spastic diplegia | |
| Hyporeflexia | |
| Choreoathetosis | |
| Mental deterioration | |
| Hemiparesis | |
| Motor delay | |
| Polyneuropathy | |
| Cerebellar atrophy | |
| Abnormality of the corpus callosum | |
| Agenesis of corpus callosum | |
| Hypertonia | |
| Orthostatic hypotension | |
| Syncope | |
| Tetany | |
| Bulbar palsy | |
| Areflexia | |
| Spastic tetraparesis | |
| Meningitis | |
| Gait disturbance | |
| Confusion | |
| Generalized hypotonia | |
| Abnormality of the cranial nerves | |
| Cranial nerve compression | |
| Stroke | |
| Encephalopathy | |
| Parkinsonism | |
| Chronic sensorineural polyneuropathy | |
| Pachygyria | |
| Torsion dystonia | |
| Dandy-Walker malformation | |
| Tongue fasciculations | |
| Dysmetria | |
| Abnormal nervous system electrophysiology | |
| Giant somatosensory evoked potentials | |
| Reduced tendon reflexes | |
| Abnormality of the cerebellum | |
| Neonatal hypotonia | |
| Cerebellar vermis hypoplasia | |
| Cerebellar hypoplasia | |
| Brain very small | |
| Muscle weakness | |
| Hypoglycemic coma | |
| EEG with irregular generalized spike and wave complexes | |
| Photomyoclonic seizures | |
| Specific learning disability | |
| Absent septum pellucidum | |
| Dystonia | |
| Communicating hydrocephalus | |
| Bimanual synkinesia | |
| Myoclonus | |
| Tremor | |
| Partial agenesis of the corpus callosum | |
| Lissencephaly | |
| Enhancement of the C-reflex | |
| Olfactory lobe agenesis | |
| Cerebral hemorrhage | |
| Kernicterus | |
| Absent speech | |
| Psychotic mentation | |
| Hyperreflexia | |
| Brisk reflexes | |
| Facial diplegia | |
| Slurred speech | |
| Jerk-locked premyoclonus spikes | |
| Megalencephaly | |
| Plagiocephaly | |
| Holoprosencephaly | |
| Nystagmus-induced head nodding | |
| Skull defect | |
| Craniosynostosis | |
| Abnormal joint morphology | |
| Arthritis | |
| Rheumatoid arthritis | |
| Flexion contracture | |
| Joint dislocation | |
| Congenital hip dislocation | |
| Limitation of joint mobility | |
| Limited elbow extension | |
| Degenerative joint disease | |
| Ligamentous laxity | |
| Joint hypermobility | |
| Abnormality of the hip joint | |
| Hip dysplasia | |
| Joint swelling | |
| Joint stiffness | |
| Joint laxity | |
| Abnormality of the liver | |
| Cirrhosis | |
| Hepatic fibrosis | |
| Cholestasis | |
| Hepatic steatosis | |
| Hepatic failure | |
| Hepatic abscesses due to immunodeficiency | |
| Intrahepatic biliary dysgenesis | |
| Hepatocellular carcinoma | |
| Macrovesicular hepatic steatosis | |
| Hepatocellular necrosis | |
| Periportal fibrosis | |
| Intrahepatic cholestasis | |
| Hepatic cysts | |
| Bile duct proliferation | |
| Portal hypertension | |
| Decreased liver function | |
| Enteroviral hepatitis | |
| Micronodular cirrhosis | |
| Microvesicular hepatic steatosis | |
| X-linked inheritance | |
| X-linked recessive inheritance | |
| Abnormality of the musculature of the hand | |
| X-linked dominant inheritance | |
| Heterogeneous | |
| Multifactorial inheritance | |
| Mitochondrial inheritance | |
| Somatic mutation | |
| Abnormality of the calf musculature | |
| Hepatosplenomegaly | |
| Abnormality of the shoulder girdle musculature | |
| Abnormality of the foot musculature | |
| Abnormality of the musculature of the lower limbs | |
| Abnormality of the abdomen | |
| Synostosis involving metatarsal bones | |
| Abnormality of the musculature of the thigh | |
| Somatic mosaicism | |
| Abnormality of the gluteal musculature | |
| Autosomal dominant somatic cell mutation | |
| Abnormality of the hip-girdle musculature | |
| Abnormality of the musculature of the upper limbs | |
| Duplication of metatarsal bones | |
| Y-linked inheritance | |
| Autosomal dominant contiguous gene syndrome | |
| Abnormality of the upper arm | |
| Abnormality of the musculature of the upper arm | |
| 1-3 toe syndactyly | |
| Aplasia/Hypoplasia involving the musculature | |
| Aplasia/Hypoplasia involving the shoulder musculature | |
| Amyotrophy involving the shoulder musculature | |
| Contiguous gene syndrome | |
| Aplasia/Hypoplasia involving the musculature of the upper limbs | |
| Aplasia/Hypoplasia involving the musculature of the upper arm | |
| Abnormality of the musculature of the pelvis | |
| Sex-limited autosomal dominant | |
| Aplasia/Hypoplasia of the musculature of the pelvis | |
| Familial predisposition | |
| Metatarsal osteolysis | |
| Sclerotic scapulae | |
| Male-limited autosomal dominant | |
| Delayed closure of the anterior fontanelle | |
| Compensatory chin elevation | |
| Freckling | |
| Subcutaneous nodule | |
| Eye poking | |
| Hypopigmented fundi | |
| Bilateral ptosis | |
| Vitreous detachment | |
| Congenital fibrosis of extraocular muscles | |
| Axenfeld anomaly | |
| Falciform retinal fold | |
| Carpal osteolysis | |
| Carpal bone hypoplasia | |
| Broad finger | |
| 6 metacarpals | |
| Metacarpal osteolysis | |
| Growth abnormality | |
| Failure to thrive | |
| Growth delay | |
| Intrauterine growth retardation | |
| Obesity | |
| Small for gestational age | |
| Disproportionate tall stature | |
| Large for gestational age | |
| Death in infancy | |
| Severe failure to thrive | |
| Hemihypertrophy | |
| Mild postnatal growth retardation | |
| Failure to thrive in infancy | |
| Slender build | |
| Umbilical hernia | |
| Protuberant abdomen | |
| Omphalocele | |
| Diastasis recti | |
| Ascites | |
| Gastroschisis | |
| Prominent umbilicus | |
| Anteriorly placed anus | |
| Abnormality of the rib cage | |
| Overgrowth | |
| Abnormality of the ileum | |
| Abnormality of the umbilicus | |
| Barrel-shaped chest | |
| Asymmetry of the thorax | |
| Prenatal movement abnormality | |
| Decreased fetal movement | |
| Abnormality of the amniotic fluid | |
| Polyhydramnios | |
| Oligohydramnios | |
| Fetal polyuria | |
| Widely-spaced maxillary central incisors | |
| Multiple impacted teeth | |
| Macrodontia | |
| Abnormality of the integument | |
| Mood changes | |
| Hypercortisolism | |
| Primary hypercorticolism | |
| Pigmented micronodular adrenocortical disease | |
| Recurrent skin infections | |
| Redundant skin | |
| Rotary nystagmus | |
| Vesicovaginal fistula | |
| Primary ovarian failure | |
| Bell-shaped thorax | |
| Selective tooth agenesis | |
| Maxillary lateral incisor microdontia | |
| Abnormality of the hair | |
| Alopecia | |
| Abnormality of the nail | |
| Concave nail | |
| Abnormality of the larynx | |
| Laryngomalacia | |
| Laryngeal stenosis | |
| Vocal cord paresis | |
| Vocal cord paralysis | |
| Vocal cord paralysis (caused by tumor impingement) | |
| Subglottic stenosis | |
| Abnormality of the voice | |
| Hoarse voice | |
| Nasal speech | |
| Weak cry | |
| Hoarse voice (caused by tumor impingement) | |
| Hoarse cry | |
| Dysphonia | |
| High pitched voice | |
| Weak voice | |
| Premature birth | |
| Breech presentation | |
| Abnormality of the cardiovascular system | |
| Abnormality of cardiac morphology | |
| Ventricular septal defect | |
| Defect in the atrial septum | |
| Abnormality of the mitral valve | |
| Mitral valve prolapse | |
| Congestive heart failure | |
| Tetralogy of Fallot | |
| Abnormality of the myocardium | |
| Cardiomyopathy | |
| Hypertrophic cardiomyopathy | |
| Cardiomegaly | |
| Abnormality of the pulmonary valve | |
| Pulmonic stenosis | |
| Patent ductus arteriosus | |
| Dilated cardiomyopathy | |
| Sudden cardiac death | |
| Abnormality of the aortic valve | |
| Bicuspid aortic valve | |
| Cor pulmonale | |
| Tachycardia | |
| Aortic valve stenosis | |
| Dextrocardia | |
| Mitral regurgitation | |
| Abnormality of the heart valves | |
| Patent foramen ovale | |
| Prolonged QT interval | |
| Myocardial infarction | |
| Aortic regurgitation | |
| Truncus arteriosus | |
| Bradycardia | |
| Ventricular fibrillation | |
| Torsade de pointes | |
| Right ventricular hypertrophy | |
| Transposition of the great arteries | |
| Asymmetric septal hypertrophy | |
| Abnormality of the cardiac septa | |
| Tachycardia (with pheochromocytoma) | |
| Complete atrioventricular canal defect | |
| Rhythm disturbances associated with pheochromocytoma | |
| Palpitations (with pheochromocytoma) | |
| Coronary artery disease | |
| Atrioventricular block | |
| Abnormality of the aorta | |
| Coarctation of aorta | |
| Angina pectoris | |
| Subaortic stenosis | |
| Ectopia cordis | |
| Secundum atrial septal defect | |
| Myocardial fibrosis | |
| Loss of voice | |
| Sinus bradycardia | |
| Muscular subvalvular aortic stenosis | |
| Primary atrial arrhythmia | |
| Cardiac shunt | |
| Right-to-left shunt | |
| Cardiac arrest | |
| Situs inversus totalis | |
| Abnormality of the pericardium | |
| Pericardial effusion | |
| Sudden death | |
| Myocardial necrosis | |
| Pericarditis | |
| Abnormality of the tricuspid valve | |
| Tricuspid valve prolapse | |
| Right ventricular outlet obstruction | |
| Endocardial fibroelastosis | |
| Abnormality of the right ventricle | |
| Right ventricular failure | |
| Third degree atrioventricular block | |
| Conotruncal defect | |
| Abnormality of the left ventricle | |
| Left ventricular hypertrophy | |
| Abnormality of cardiac ventricle | |
| Ventricular hypertrophy | |
| Wolff-Parkinson-White syndrome | |
| Coronary artery calcification | |
| Mitral stenosis | |
| Double outlet right ventricle | |
| High-output congestive heart failure | |
| Restrictive cardiomyopathy | |
| Aortic dilatation | |
| Increased prevalence of valvular disease | |
| Thromboembolic stroke | |
| Progressive hearing impairment | |
| Abnormality of the pancreas | |
| Pancreatitis | |
| Annular pancreas | |
| Acute pancreatitis | |
| Pancreatic cysts | |
| Exocrine pancreatic insufficiency | |
| Abnormality of the nasopharynx | |
| Phimosis | |
| Nasal obstruction | |
| Abnormality of the spleen | |
| Splenomegaly | |
| Asplenia | |
| Accessory spleen | |
| Polysplenia | |
| Single ventricle | |
| Vestibular dysfunction | |
| Vestibular hypofunction | |
| High-frequency sensorineural hearing impairment | |
| Abnormality of the foot | |
| Pes cavus | |
| Talipes equinovarus | |
| Pes planus | |
| Hammertoe | |
| Broad foot | |
| Toe syndactyly | |
| Achilles tendon contracture | |
| Talipes equinovalgus | |
| Short foot | |
| Tarsal osteovalgus | |
| Bilateral talipes equinovarus | |
| Abnormality of toe | |
| Bulbous tips of toes | |
| Broad metatarsal | |
| Ankle swelling | |
| Narrow foot | |
| Abnormal delivery | |
| Premature rupture of membranes | |
| Hydrops fetalis | |
| Nonimmune hydrops fetalis | |
| Fetal ascites | |
| Small nail | |
| Hyperconvex nail | |
| Anonychia | |
| Short nail | |
| Hypoplastic toenails | |
| Absent toenail | |
| Nail pits | |
| Hypoplastic fingernail | |
| Thick nail | |
| Onycholysis | |
| Ridged nail | |
| Fragile nails | |
| Split nail | |
| Dystrophic toenail | |
| Hyperconvex fingernails | |
| Deep-set nails | |
| Thin nail | |
| Absent fingernail | |
| Paronychia | |
| Leukonychia | |
| Broad nail | |
| Hallux valgus | |
| Weight loss | |
| Genital tract atresia | |
| Foot polydactyly | |
| Postaxial foot polydactyly | |
| Short toe | |
| Abnormality of the metatarsal bones | |
| Long foot | |
| Camptodactyly of toe | |
| Broad toe | |
| Rocker bottom foot | |
| Split foot | |
| Metatarsus adductus | |
| Preaxial foot polydactyly | |
| Acroosteolysis (feet) | |
| Abnormality of the hallux | |
| Overlapping toe | |
| Long hallux | |
| Calcaneovalgus deformity | |
| Oligodactyly (feet) | |
| Abnormality of the tarsal bones | |
| Sandal gap | |
| Bifid distal phalanx of toe | |
| Gout (feet) | |
| Short distal phalanx of toe | |
| Distal symphalangism (feet) | |
| Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) | |
| Toe clinodactyly | |
| Clinodactyly of the 5th toe | |
| Autoamputation (feet) | |
| Deep plantar creases | |
| Acroosteolysis of distal phalanges (feet) | |
| Abnormality of blood and blood-forming tissues | |
| Abnormality of thrombocytes | |
| Thrombocytopenia | |
| Abnormality of neutrophils | |
| Neutropenia | |
| Pancytopenia | |
| Abnormality of erythrocytes | |
| Hemolytic anemia | |
| Abnormality of eosinophils | |
| Eosinophilia | |
| Abnormality of leukocytes | |
| Leukopenia | |
| Talipes | |
| Talipes calcaneovalgus | |
| Short 2nd toe | |
| Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) | |
| Lymphopenia | |
| Megaloblastic anemia | |
| Autoimmune hemolytic anemia | |
| Iron deficiency anemia | |
| Abnormal bleeding | |
| Thrombocytosis | |
| Normochromic anemia | |
| Reticulocytopenia | |
| Normocytic anemia | |
| Increased red blood cell mass | |
| Increased hematocrit | |
| Increased hemoglobin | |
| Polycythemia | |
| Giant platelets | |
| Anemia | |
| Autoimmune neutropenia | |
| Congenital thrombocytopenia | |
| Thromboembolism | |
| Hypoplastic anemia | |
| Leukemia | |
| Abnormality of granulocytes | |
| Abnormality of basophils | |
| Granulocytopenia | |
| Aplastic anemia | |
| Renal amyloidosis | |
| Acute kidney injury | |
| Renal artery stenosis | |
| Vacuolated lymphocytes | |
| Reticulocytosis | |
| Sideroblastic anemia | |
| Acanthocytosis | |
| Abnormality of coagulation | |
| Reduced factor XI activity | |
| Nonspherocytic hemolytic anemia | |
| Hypochromic anemia | |
| Subcutaneous hemorrhage | |
| Persistent bleeding after trauma | |
| Microcytic anemia | |
| Microangiopathic hemolytic anemia | |
| Abnormality of metabolism/homeostasis | |
| Acidosis | |
| Metabolic acidosis | |
| Hypoglycemia | |
| Dehydration | |
| Fever | |
| Ketosis | |
| Renal tubular acidosis | |
| Alkalosis | |
| Hypokalemic alkalosis | |
| Respiratory alkalosis | |
| Episodic ammonia intoxication | |
| Abnormal glucose tolerance | |
| Diabetic ketoacidosis | |
| Episodic fever | |
| Unexplained fevers | |
| Truncal obesity | |
| Nonketotic hypoglycemia | |
| Polydipsia | |
| Hypokalemic metabolic alkalosis | |
| Hypoplastic heart | |
| Palpitations | |
| Abnormal speech discrimination | |
| Aplasia/Hypoplasia of metatarsal bones | |
| Abnormality of the scalp | |
| Mesangial abnormality | |
| Diffuse mesangial sclerosis | |
| Tubulointerstitial abnormality | |
| Tubulointerstitial nephritis | |
| Hypersplenism | |
| Macrocytic anemia | |
| Autoimmune thrombocytopenia | |
| Leukocytosis | |
| Decreased platelet glycoprotein IIb-IIIa | |
| Reduced antithrombin III activity | |
| Abnormal thrombosis | |
| Extramedullary hematopoiesis | |
| Megaloblastic bone marrow | |
| Schistocytosis | |
| Sea-blue histiocytosis | |
| Reduced lymphocyte surface expression of CD43 (sialophorin) | |
| Intolerance to protein | |
| Hypoketotic hypoglycemia | |
| Hypertonic dehydration | |
| Hyperammonemia | |
| Recurrent hypoglycemia | |
| Fetal akinesia sequence | |
| Aplasia/Hypoplasia of toe | |
| Organic aciduria | |
| Ketoacidosis | |
| Renal Fanconi syndrome | |
| Hyperchloremic acidosis | |
| Chronic metabolic acidosis | |
| Gout | |
| Neonatal hypoglycemia | |
| Abnormal facial shape | |
| Short columella | |
| Deep philtrum | |
| Large forehead | |
| Facial cleft | |
| Frontal bossing | |
| Potter facies | |
| Narrow maxilla | |
| Morphological abnormality of the central nervous system | |
| Abnormality of the abdominal organs | |
| Vomiting | |
| Diarrhea | |
| Dysphagia | |
| Nausea and vomiting | |
| Nausea | |
| Constipation | |
| Gastroesophageal reflux | |
| Pyloric stenosis | |
| Anal atresia | |
| Malabsorption | |
| Anal stenosis | |
| Abdominal pain | |
| Chronic diarrhea | |
| Abnormality of the esophagus | |
| Esophageal atresia | |
| Poor suck | |
| Abnormality of the rectum | |
| Rectal prolapse | |
| Hiatus hernia | |
| Inflammation of the large intestine | |
| Protein avoidance | |
| Anorexia | |
| Esophageal varix | |
| Intractable diarrhea | |
| Esophageal stricture | |
| Zollinger-Ellison syndrome | |
| Hypothermia | |
| Heat intolerance | |
| Malignant hyperthermia | |
| Renal cortical atrophy | |
| Proximal renal tubular acidosis | |
| Macroorchidism, postpubertal | |
| Heavy supraorbital ridges | |
| Curved linear dimple below the lower lip | |
| Abnormality of the glabella | |
| Prominent glabella | |
| Myopathic facies | |
| Cerebral atrophy | |
| Abnormality of the cerebrum | |
| Lower limb spasticity | |
| Morphological abnormality of the pyramidal tract | |
| Rigidity | |
| Spastic gait | |
| Gait ataxia | |
| Bradykinesia | |
| Neuromuscular dysphagia | |
| Generalized tonic-clonic seizures | |
| Limb ataxia | |
| Abnormality of extrapyramidal motor function | |
| Chorea | |
| Progressive cerebellar ataxia | |
| Increased neuronal autofluorescent lipopigment | |
| Dysdiadochokinesis | |
| Migraine | |
| Migraine with aura | |
| Truncal ataxia | |
| Hypoplasia of the corpus callosum | |
| Intention tremor | |
| Migraine without aura | |
| Encephalocele | |
| Occipital encephalocele | |
| Abnormality of the respiratory system | |
| Abnormality of the upper respiratory tract | |
| Abnormality of the lung | |
| Pulmonary hypoplasia | |
| Pneumonia | |
| Restrictive lung disease | |
| Pulmonary hypertension | |
| Respiratory insufficiency | |
| Dyspnea | |
| Emphysema | |
| Respiratory distress | |
| Asthma | |
| Recurrent aspiration pneumonia | |
| Abnormal lung lobation | |
| Pleuritis | |
| Abnormality of the pleura | |
| Apnea | |
| Hemoptysis | |
| Pneumothorax | |
| Spontaneous pneumothorax | |
| Abnormality of the bronchi | |
| Bronchiectasis | |
| Restrictive respiratory insufficiency | |
| Pulmonary infiltrates | |
| Abnormality of the cerebral ventricles | |
| Ventriculomegaly | |
| Cerebral cortical atrophy | |
| Absence seizures | |
| Generalized myoclonic seizures | |
| Polymicrogyria | |
| Upper motor neuron abnormality | |
| Episodic ataxia | |
| Porencephaly | |
| Status epilepticus | |
| Abnormality of the basal ganglia | |
| Basal ganglia calcification | |
| Broad-based gait | |
| Subarachnoid hemorrhage | |
| Arrhinencephaly | |
| Ischemic stroke | |
| Gait imbalance | |
| Abnormality of the spinal cord | |
| Tethered cord | |
| Frontotemporal dementia | |
| Hypophosphatemia | |
| Hyperuricemia | |
| Hypercalciuria | |
| Increased serum lactate | |
| Hyperproteinemia | |
| Hyperkalemia | |
| Hyperglycinemia | |
| Hypertriglyceridemia | |
| Homocystinuria | |
| Azotemia | |
| Heparan sulfate excretion in urine | |
| Hyperhomocystinemia | |
| Hyperlysinemia | |
| Low posterior hairline | |
| Nail dysplasia | |
| Pterygium formation (nails) | |
| Impaired vibration sensation in the lower limbs | |
| Neurological speech impairment | |
| Scanning speech | |
| Clonus | |
| Intracranial hemorrhage | |
| Gliosis | |
| Postural instability | |
| Hypoglycemic seizures | |
| Postural tremor | |
| Spinal cord compression | |
| Opisthotonus | |
| Neurodegeneration | |
| Cerebral edema | |
| Phonophobia | |
| Neurofibrillary tangles | |
| Apraxia | |
| Intellectual disability, profound | |
| Delayed CNS myelination | |
| Excessive daytime sleepiness | |
| Choroid plexus cyst | |
| Progressive spasticity | |
| Pseudobulbar behavioral symptoms | |
| Delayed gross motor development | |
| Dysgenesis of the cerebellar vermis | |
| Myelopathy | |
| Generalized seizures | |
| Dilated fourth ventricle | |
| Hypocalcemic seizures | |
| Pseudobulbar signs | |
| Pleural effusion | |
| Respiratory paralysis | |
| Pulmonary embolism | |
| Recurrent respiratory infections | |
| Pulmonary fibrosis | |
| Diffuse reticular or finely nodular infiltrations | |
| Coarse hair | |
| Sparse scalp hair | |
| White forelock | |
| Curly hair | |
| Fine hair | |
| Sparse axillary hair | |
| Premature graying of hair | |
| Slow-growing hair | |
| Silver-gray hair | |
| Facial hypertrichosis | |
| Melanin pigment aggregation in hair shafts | |
| Absent axillary hair | |
| Absent eyebrow | |
| Woolly hair | |
| Sparse pubic hair | |
| White eyebrow | |
| White eyelashes | |
| Alopecia areata | |
| Generalized hirsutism | |
| Sparse body hair | |
| Patchy alopecia | |
| Early balding | |
| Pili canaliculi | |
| Frontal upsweep of hair | |
| Gastrointestinal hemorrhage | |
| Hepatomegaly | |
| Abnormality of the intestine | |
| Protein-losing enteropathy | |
| Abnormality of the small intestine | |
| Meckel diverticulum | |
| Abnormality of the duodenum | |
| Duodenal atresia | |
| Hematemesis | |
| Melena | |
| Abnormality of the large intestine | |
| Aganglionic megacolon | |
| Colonic diverticulosis | |
| Intermittent diarrhea | |
| Small bowel diverticula | |
| Chronic rhinitis | |
| Exaggerated cupid's bow | |
| Large fleshy ears | |
| Focal clonic seizures | |
| Exaggerated startle response | |
| Paroxysmal dystonia | |
| Abnormality of neuronal migration | |
| Abnormality of the autonomic nervous system | |
| Autonomic dysregulation | |
| Tetraparesis | |
| Poor motor coordination | |
| Horner syndrome | |
| Enlarged cisterna magna | |
| Gray matter heterotopias | |
| Heterotopia | |
| Global brain atrophy | |
| Fair hair | |
| Progressive alopecia | |
| Alopecia universalis | |
| Poliosis | |
| Frontal balding | |
| Alopecia of scalp | |
| Progressive hypotrichosis | |
| Red hair | |
| Absent hair | |
| Brittle hair | |
| Mutism | |
| Hemiplegia | |
| Akinesia | |
| Athetosis | |
| Drooling | |
| Arnold-Chiari malformation | |
| Orofacial dyskinesia | |
| Incoordination | |
| Clumsiness | |
| Spastic paraparesis | |
| Degeneration of the lateral corticospinal tracts | |
| Headache | |
| Unsteady gait | |
| Cervical myelopathy | |
| Vertigo | |
| Resting tremor | |
| Anencephaly | |
| Hydranencephaly | |
| Transient ischemic attack | |
| Drowsiness | |
| Paroxysmal drowsiness | |
| Headache (with pheochromocytoma) | |
| Lack of peer relationships | |
| Motor deterioration | |
| Abnormality of the cerebellar vermis | |
| Agenesis of cerebellar vermis | |
| Abnormality of the caudate nucleus | |
| Caudate atrophy | |
| Cervical cord compression | |
| Intellectual disability, moderate | |
| Normal pressure hydrocephalus | |
| Progressive neurologic deterioration | |
| Action tremor | |
| Head tremor | |
| Focal seizures without impairment of consciousness or awareness | |
| Cerebellar cyst | |
| Leukoencephalopathy | |
| EEG abnormality | |
| Memory impairment | |
| Difficulty walking | |
| Writer's cramp | |
| Dysphasia | |
| Frequent falls | |
| Sleep disturbance | |
| Psychomotor deterioration | |
| Shuffling gait | |
| Abnormality of brainstem morphology | |
| Hypoplasia of the brainstem | |
| Abnormality of the lower motor neuron | |
| Visual hallucinations | |
| Poor coordination | |
| Loss of speech | |
| Normal interictal EEG | |
| Febrile seizures | |
| Diminished movement | |
| Hypokinesia | |
| Developmental regression | |
| Paraganglioma-related cranial nerve palsy | |
| Hand tremor | |
| Fasciculations | |
| Aphasia | |
| Encephalitis | |
| Focal seizures with impairment of consciousness or awareness | |
| Paraparesis | |
| Cavum septum pellucidum | |
| Spinal arteriovenous malformation | |
| EEG with polyspike wave complexes | |
| Lower limb hyperreflexia | |
| Cogwheel rigidity | |
| Degeneration of anterior horn cells | |
| Stroke-like episodes | |
| Positive Romberg sign | |
| Thickened superior cerebellar peduncle | |
| Limb dysmetria | |
| Cerebral arteriovenous malformation | |
| Aqueductal stenosis | |
| Myokymia | |
| Spina bifida | |
| Leukodystrophy | |
| Subependymal cysts | |
| Abnormality of midbrain morphology | |
| Molar tooth sign on MRI | |
| Poor head control | |
| Long-tract signs | |
| Anarthria | |
| Motor aphasia | |
| Meningocele | |
| Occipital meningocele | |
| Cerebellar malformation | |
| Frontolimbic dementia | |
| Dyscalculia | |
| Hypothalamic hamartoma | |
| Tetraplegia | |
| Astrocytosis | |
| Progressive encephalopathy | |
| Abnormality of the motor neurons | |
| Limb dystonia | |
| Abnormality of the globus pallidus | |
| Eye of the tiger anomaly of globus pallidus | |
| Abnormal head movements | |
| Dysautonomia | |
| Distal muscle weakness | |
| Dense calcifications in the cerebellar dentate nucleus | |
| Language impairment | |
| Spastic dysarthria | |
| Poor speech | |
| Nonprogressive cerebellar ataxia | |
| Small cerebral cortex | |
| Expressive language delay | |
| Myelomeningocele | |
| Primitive reflexes (palmomental, snout, glabellar) | |
| Progressive spastic quadriplegia | |
| Hepatic encephalopathy | |
| Bulbar signs | |
| Myotonia | |
| Hyperkinesis | |
| Acute leukemia | |
| Increased CSF lactate | |
| Spasticity of facial muscles | |
| Abnormality of the corticospinal tract | |
| Corticospinal tract dysfunction | |
| Abnormal rapid eye movement (REM) sleep | |
| Impaired vibratory sensation | |
| Spastic ataxia | |
| Abnormality of the cerebral white matter | |
| Spasticity of pharyngeal muscles | |
| Spinocerebellar tract degeneration | |
| Calcification of the small brain vessels | |
| Progressive inability to walk | |
| Diffuse cerebral atrophy | |
| Semilobar holoprosencephaly | |
| Brainstem dysplasia | |
| Limb hypertonia | |
| Spastic tetraplegia | |
| Alzheimer disease | |
| Brain stem compression | |
| Cerebral calcification | |
| Waddling gait | |
| Increased intracranial pressure | |
| Abnormality of the periventricular white matter | |
| Hypnagogic hallucinations | |
| Hypsarrhythmia | |
| Areflexia of lower limbs | |
| Cataplexy | |
| Deficit in nonword repetition | |
| Falls | |
| Granulovacuolar degeneration | |
| Neuronal loss in central nervous system | |
| Axial dystonia | |
| Abnormal posturing | |
| Abnormal cortical gyration | |
| Abnormality of the cerebral cortex | |
| Cortical dysplasia | |
| Inability to walk | |
| Olivopontocerebellar atrophy | |
| Retrocollis | |
| Patchy demyelination of subcortical white matter | |
| Incomprehensible speech | |
| Parkinsonism with favorable response to dopaminergic medication | |
| Deficit in phonologic short-term memory | |
| Absent facial hair | |
| Trichodysplasia | |
| Highly arched eyebrow | |
| Absent pubic hair | |
| Hypoplastic nipples | |
| Supernumerary nipples | |
| Absent nipples | |
| Low-set nipples | |
| Constrictive pericarditis | |
| Malformation of the heart and great vessels | |
| Intestinal malrotation | |
| Steatorrhea | |
| Achalasia | |
| Episodic vomiting | |
| Hematochezia | |
| Episodic abdominal pain | |
| Tracheoesophageal fistula | |
| Intussusception | |
| Abnormality of the stomach | |
| Gastroparesis | |
| Gastrointestinal dysmotility | |
| Volvulus | |
| Chronic atrophic gastritis | |
| Colitis | |
| Intestinal bleeding | |
| Abnormality of the peritoneum | |
| Peritonitis | |
| Projectile vomiting | |
| Duodenal ulcer | |
| Gastrointestinal atresia | |
| Paralytic ileus | |
| Polyphagia | |
| Gastric ulcer | |
| Intestinal lymphangiectasia | |
| Pancreatic hypoplasia | |
| Ileus | |
| Abnormality of the vasculature | |
| Head titubation | |
| Hyporeflexia of lower limbs | |
| Paresis of extensor muscles of the big toe | |
| Gastrointestinal telangiectasia | |
| Hepatic necrosis | |
| Bowel incontinence | |
| Celiac disease | |
| Cholestatic liver disease | |
| Congenital hepatic fibrosis | |
| Biliary cirrhosis | |
| Hepatic periportal necrosis | |
| Hypotension | |
| Aortic root dilatation | |
| Aneurysm | |
| Varicose veins | |
| Atherosclerosis | |
| Dissecting aortic aneurysm | |
| Overriding aorta | |
| Venous abnormality | |
| Deep venous thrombosis | |
| Venous varicosities of celiac and mesenteric vessels | |
| Right aortic arch with mirror image branching | |
| Gastrointestinal arteriovenous malformation | |
| Fat malabsorption | |
| Ascending aortic aneurysm | |
| Low-to-normal blood pressure | |
| Vasculitis | |
| Arteriosclerosis | |
| Atheromatosis | |
| Aneurysm of an abdominal artery | |
| Cerebral ischemia | |
| Superficial thrombophlebitis | |
| Budd-Chiari syndrome | |
| Hypertension associated with pheochromocytoma | |
| Peripheral thrombosis | |
| Arteriovenous fistulas of celiac and mesenteric vessels | |
| Neonatal respiratory distress | |
| Abnormality of pelvic girdle bone morphology | |
| Wormian bones | |
| Aortic dissection | |
| Abnormality of calvarial morphology | |
| Scoliosis | |
| Spondyloepimetaphyseal dysplasia | |
| Skeletal dysplasia | |
| Bone pain | |
| Multiple epiphyseal dysplasia | |
| Spondyloepiphyseal dysplasia | |
| Epiphyseal dysplasia | |
| Spondylometaphyseal dysplasia | |
| Increased susceptibility to fractures | |
| Painless fractures due to injury | |
| Delayed epiphyseal ossification | |
| Neoplasm | |
| Lymphoma | |
| Pheochromocytoma | |
| Nephroblastoma (Wilms tumor) | |
| Paraganglioma | |
| Osteosarcoma | |
| Basal cell carcinoma | |
| Gastrointestinal carcinoma | |
| Coxa valga | |
| Cloverleaf skull | |
| Small foramen magnum | |
| Skull asymmetry | |
| Abnormality of the sella turcica | |
| J-shaped sella turcica | |
| Deformed sella turcica | |
| Broad skull | |
| Abnormality of the calvaria | |
| Thickened calvaria | |
| Prenatal maternal abnormality | |
| Abnormality of the frontal sinuses | |
| Absent frontal sinuses | |
| Absent paranasal sinuses | |
| Large sella turcica | |
| Platybasia | |
| Hypoplastic facial bones | |
| Abnormality of the skull base | |
| Sclerosis of skull base | |
| Symmetrical, oval parietal bone defects | |
| Abnormality of the parietal bone | |
| Parietal foramina | |
| Abnormality of the foramen magnum | |
| Large foramen magnum | |
| Abnormality of skull ossification | |
| High, narrow palate | |
| Palate telangiectasia | |
| Prominent median palatal raphe | |
| Commissural lip pit | |
| Exaggerated median tongue furrow | |
| Downturned corners of mouth | |
| Abnormality of the immune system | |
| Lymphadenopathy | |
| Adrenal overactivity | |
| Recurrent bacterial infections | |
| Recurrent infections | |
| IgA deficiency | |
| Immunodeficiency | |
| Recurrent abscess formation | |
| Absence of bactericidal oxidative 'respiratory burst' in phagocytes | |
| Recurrent Aspergillus infections | |
| Systemic lupus erythematosus | |
| Recurrent Staphylococcus aureus infections | |
| Chronic mucocutaneous candidiasis | |
| Follicular hyperplasia | |
| Chronic noninfectious lymphadenopathy | |
| Defective lymphocyte apoptosis | |
| Lymph node hypoplasia | |
| Abnormality of the lymph nodes | |
| Thick skull base | |
| Hypoplastic frontal sinuses | |
| Recurrent E. coli infections | |
| Recurrent Serratia marcescens infections | |
| Recurrent Klebsiella infections | |
| Recurrent enteroviral infections | |
| Bilateral cleft lip and palate | |
| Oral leukoplakia | |
| Respiratory insufficiency due to muscle weakness | |
| Rickets | |
| Osteomalacia | |
| Delayed skeletal maturation | |
| Kyphoscoliosis | |
| Sparse bone trabeculae | |
| Thin bony cortex | |
| Osteomyelitis | |
| Osteomyelitis due to immunodeficiency | |
| Pathologic fracture | |
| Recurrent fractures | |
| Osteoarthritis | |
| Generalized joint laxity | |
| Multiple exostoses | |
| Abnormal cartilage morphology | |
| Stippled chondral calcification | |
| Relatively short spine | |
| obsolete Small vertebral bodies | |
| Tracheal stenosis | |
| Abnormality of the trachea | |
| Tracheomalacia | |
| Bronchomalacia | |
| Upper airway obstruction | |
| Recurrent lower respiratory tract infections | |
| Tracheobronchomalacia | |
| Tracheal calcification | |
| Recurrent upper respiratory tract infections | |
| Tachypnea | |
| Neonatal breathing dysregulation | |
| Hypoventilation | |
| Reduced vital capacity | |
| Abnormal pattern of respiration | |
| Functional respiratory abnormality | |
| Osteolysis | |
| Congenital contracture | |
| Arthrogryposis multiplex congenita | |
| Accelerated bone age after puberty | |
| Kyphosis | |
| Dumbbell-shaped metaphyses | |
| Coxa vara | |
| Abnormality of limb bone morphology | |
| Abnormality of the lower limb | |
| Abnormality of the knees | |
| Genu recurvatum | |
| Abnormality of the upper limb | |
| Abnormality of the radius | |
| Neuropathic arthropathy | |
| Hyperplasia of the femoral trochanters | |
| Abnormality of the femur | |
| Caudal appendage | |
| Halberd-shaped pelvis | |
| Hip dislocation | |
| Multiple joint contractures | |
| Arthralgia | |
| Long coccyx | |
| Calcific stippling | |
| Cystic angiomatosis of bone | |
| Flared femoral metaphysis | |
| Aspiration | |
| Bladder exstrophy | |
| Recurrent bronchitis | |
| Urinary bladder sphincter dysfunction | |
| Lymphadenitis | |
| Recurrent fungal infections | |
| Recurrent Burkholderia cepacia infections | |
| Abnormality of T cells | |
| Increased number of peripheral CD3+ T cells | |
| Abnormality of B cells | |
| Impaired memory B-cell generation | |
| Specific anti-polysaccharide antibody deficiency | |
| Absence of lymph node germinal center | |
| IgM deficiency | |
| Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors | |
| Increased proportion of HLA DR+ and CD57+ T cells | |
| Genu valgum | |
| Meningioma | |
| Rhabdomyosarcoma | |
| Squamous cell carcinoma | |
| Melanoma | |
| Bladder carcinoma | |
| Myelodysplasia | |
| Paraganglioma of head and neck | |
| Medullary thyroid carcinoma | |
| Hypoplastic iliac wings | |
| Abnormality of the ilium | |
| Narrow iliac wings | |
| Flared iliac wings | |
| Obstructive sleep apnea | |
| Central apnea | |
| Apneic episodes precipitated by illness, fatigue, stress | |
| Exertional dyspnea | |
| Episodic tachypnea | |
| Nocturnal hypoventilation | |
| Respiratory failure | |
| Anisospondyly | |
| Respiratory difficulties | |
| Sudden episodic apnea | |
| Hyperventilation | |
| Hepatoblastoma | |
| Medulloblastoma | |
| Vagal paraganglioma | |
| Ependymoma | |
| Thyroid carcinoma | |
| Uterine leiomyosarcoma | |
| Pituitary adenoma | |
| Neoplasm of the pancreas | |
| Papillary thyroid carcinoma | |
| Neoplasm of the liver | |
| Parathyroid adenoma | |
| Embryonal neoplasm | |
| Hypokalemia | |
| Hypocalcemia | |
| Hyponatremia | |
| Hyperbilirubinemia | |
| Hyperphosphatemia | |
| Microscopic hematuria | |
| Conjugated hyperbilirubinemia | |
| Generalized aminoaciduria | |
| Elevated hepatic transaminases | |
| Methylmalonic acidemia | |
| Myoglobinuria | |
| Hyperchloridura | |
| Abnormality of chromosome segregation | |
| Hypomagnesemia | |
| Hypermagnesemia | |
| Ketonuria | |
| Decreased circulating ACTH level | |
| Abnormality of the cerebrospinal fluid | |
| Increased CSF protein | |
| Rheumatoid factor positive | |
| Decreased circulating aldosterone level | |
| Thyroid-stimulating hormone excess | |
| Abnormality of thyroid physiology | |
| Histidinuria | |
| Decreased activity of the pyruvate dehydrogenase (PDH) complex | |
| Leydig cell insensitivity to gonadotropin | |
| Thyroid hormone receptor defect | |
| Aldehyde oxidase deficiency | |
| Ventral hernia | |
| Distal sensory impairment | |
| Hemivertebrae | |
| Lumbar hyperlordosis | |
| Thoracic kyphosis | |
| Thoracic scoliosis | |
| Thoracolumbar scoliosis | |
| Intervertebral space narrowing | |
| Supernumerary vertebrae | |
| Cervical kyphosis | |
| Vertebral fusion | |
| Fused cervical vertebrae | |
| Partial absence of cerebellar vermis | |
| Vertebral compression fractures | |
| Granulomatosis | |
| Immune dysregulation | |
| Impaired Ig class switch recombination | |
| Autoimmunity | |
| Dysgammaglobulinemia | |
| Abnormal delayed hypersensitivity skin test | |
| Cutaneous anergy | |
| Cubitus valgus | |
| Genu varum | |
| Absent microvilli on the surface of peripheral blood lymphocytes | |
| Reduced delayed hypersensitivity | |
| Abnormality of the forearm | |
| Radioulnar synostosis | |
| Aplasia/Hypoplasia involving the central nervous system | |
| Bowing of the legs | |
| Femoral bowing | |
| Abnormality of the calf | |
| Tibial bowing | |
| Micromelia | |
| Hypoplasia of the radius | |
| Radial bowing | |
| Elbow flexion contracture | |
| Fibular aplasia | |
| Abnormality of the fibula | |
| Abnormality of the tibia | |
| Limited elbow movement | |
| Abnormality of the ulna | |
| Patellar dislocation | |
| Glomus jugular tumor | |
| Breast carcinoma | |
| Colon cancer | |
| Ganglioneuroma | |
| Neuroblastoma | |
| Enhanced neurotoxicity of vincristine | |
| Prolonged bleeding time | |
| Abnormality of the musculature | |
| Bulging epiphyses | |
| Flared metaphyses | |
| Metaphyseal widening | |
| Abnormality of the wrist | |
| Enlargement of the wrists | |
| Metaphyseal cupping | |
| Hypoplasia of the ulna | |
| Bowing of limbs due to multiple fractures | |
| Metaphyseal irregularity | |
| Short long bones | |
| Mesomelia | |
| Abnormality of the ankles | |
| Enlargement of the ankles | |
| Ulnar bowing | |
| Diaphyseal sclerosis | |
| Enlarged joints | |
| Fibular hypoplasia | |
| Arthropathy | |
| Humeroradial synostosis | |
| Elbow dislocation | |
| Abnormality of the shoulder | |
| Shoulder flexion contracture | |
| Abnormality of the patella | |
| Radial head subluxation | |
| Ulnar deviation of the wrist | |
| Enlarged metaphyses | |
| Epiphyseal deformities of tubular bones | |
| Tetraamelia | |
| Abnormality of the radioulnar joints | |
| Abnormality of the humerus | |
| Patellar hypoplasia | |
| Limited knee extension | |
| Madelung deformity | |
| Madelung-like forearm deformities | |
| Elbow ankylosis | |
| Flattened epiphyses | |
| Hypercalcemia | |
| Hypoalbuminemia | |
| Hyperglycemia | |
| Hypoproteinemia | |
| Glycosuria | |
| Hyperlipidemia | |
| Defective DNA repair after ultraviolet radiation damage | |
| Hydroxyprolinuria | |
| Increased urinary potassium | |
| Dislocated radial head | |
| Fractures of the long bones | |
| Long fibula | |
| Acromesomelia | |
| Premature osteoarthritis | |
| Hamstring contractures | |
| Hypoplasia of the capital femoral epiphysis | |
| Trophic limb changes | |
| Limited hip extension | |
| Septic arthritis | |
| Short femur | |
| Fibular overgrowth | |
| Slender long bone | |
| Increased carrying angle | |
| Abnormal cortical bone morphology | |
| Protuberances at ends of long bones | |
| Subperiosteal erosions due to secondary hyperparathyroidism | |
| Abnormality of cholesterol metabolism | |
| Hyperglycinuria | |
| Hyperphosphaturia | |
| Abnormality of urine homeostasis | |
| Abnormality of ion homeostasis | |
| Abnormality of serum amino acid levels | |
| Hypochloremia | |
| Abnormal cardiological findings | |
| Abnormal EKG | |
| Abnormal echocardiogram | |
| Abnormality of circulating hormone level | |
| Increased circulating cortisol level | |
| Abnormality of lipid metabolism | |
| Limb joint contracture | |
| Hypercholesterolemia | |
| Reduced factor VIII activity | |
| Low-molecular-weight proteinuria | |
| Hypocalciuria | |
| Lactic acidosis | |
| Abnormal peripheral myelination | |
| Cystinuria | |
| Abnormality of the spinocerebellar tracts | |
| Abnormality of peripheral nerve conduction | |
| Prolinuria | |
| Increased blood urea nitrogen (BUN) | |
| Panhypogammaglobulinemia | |
| T-wave inversion in the right precordial leads | |
| Hyperbetalipoproteinemia | |
| Excessive purine production | |
| Increased serum serotonin | |
| Decreased adenosylcobalamin | |
| Hypocholesterolemia | |
| Elevated serum acid phosphatase | |
| Hyperuricosuria | |
| Glutaric aciduria | |
| Increased serum 1,25-dihydroxyvitamin D3 | |
| Cystathioninuria | |
| Increased circulating ACTH level | |
| Elevated alkaline phosphatase | |
| Hyposthenuria | |
| Hyperoxaluria | |
| Abnormal isoelectric focusing of serum transferrin | |
| 4-Hydroxyphenylpyruvic aciduria | |
| Fasting hypoglycemia | |
| Elevated urinary delta-aminolevulinic acid | |
| Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency | |
| Elevated circulating parathyroid hormone (PTH) level | |
| Increased urinary taurine | |
| Carnosinuria | |
| Dibasicaminoaciduria | |
| Abnormality of the acetabulum | |
| Abnormality of the pubic bones | |
| Hypoplastic pubic bones | |
| Abnormality of the ischium | |
| Hypoplastic ischia | |
| Squared iliac bones | |
| Protrusio acetabuli | |
| Flat acetabular roof | |
| Shallow acetabular fossae | |
| Wide pubic symphysis | |
| Decreased hip abduction | |
| Small sacroiliac notches | |
| Inverted nipples | |
| Breast hypoplasia | |
| Long nose | |
| Cleft ala nasi | |
| Allergic rhinitis | |
| Short nasal bridge | |
| Short nose | |
| Myopathy | |
| Decreased muscle mass | |
| Ragged-red muscle fibers | |
| Rhabdomyolysis | |
| Amyotrophy | |
| Negative nitroblue tetrazolium (NBT) reduction test | |
| Intracellular accumulation of autofluorescent lipopigment storage material | |
| Curvilinear intracellular accumulation of autofluorescent lipopigment storage material | |
| Decreased activity of NADPH oxidase | |
| Arterial calcification | |
| Fingerprint intracellular accumulation of autofluorescent lipopigment storage material | |
| Decreased pyruvate carboxylase activity | |
| Decreased methylmalonyl-CoA mutase activity | |
| Increased IgE level | |
| Deficient excision of UV-induced pyrimidine dimers in DNA | |
| Prolonged G2 phase of cell cycle | |
| Dicarboxylic aciduria | |
| Generalized amyloid deposition | |
| Hyperglutaminemia | |
| Oroticaciduria | |
| Ethylmalonic aciduria | |
| Abnormality of chromosome stability | |
| Chromosomal breakage induced by crosslinking agents | |
| Decreased methylcobalamin | |
| Increased cellular sensitivity to UV light | |
| Reduced factor V activity | |
| Rectilinear intracellular accumulation of autofluorescent lipopigment storage material | |
| Hypernatremia | |
| Hypertyrosinemia | |
| Mitochondrial malic enzyme reduced | |
| Hypoalphalipoproteinemia | |
| Decreased plasma carnitine | |
| Hypermethioninemia | |
| Elevated serum creatine phosphokinase | |
| Increased IgG level | |
| Hyperpepsinogenemia I | |
| Phosphoethanolaminuria | |
| Increased phosphoribosylpyrophosphate (PRPP) synthetase | |
| External genital hypoplasia | |
| Penile hypospadias | |
| Prominent scrotal raphe | |
| Overgrowth of external genitalia | |
| Gonadal tissue inappropriate for external genitalia or chromosomal sex | |
| Genital ulcers | |
| Aplasia of the vagina | |
| Male infertility | |
| Anteriorly displaced genitalia | |
| Abnormality of DNA repair | |
| Abnormality of the coagulation cascade | |
| Glyoxalase deficiency | |
| Elevated serum creatinine | |
| Hydroxyprolinemia | |
| Increased IgA level | |
| Smooth muscle antibody positivity | |
| Deficiency of N-acetylglucosamine-1-phosphotransferase | |
| Neonatal hyperbilirubinemia | |
| Reduced orotidine 5-prime phosphate decarboxylase activity | |
| Argininuria | |
| Sudanophilic leukodystrophy | |
| Abdominal distention | |
| Visceromegaly | |
| Abnormality of the hip bone | |
| Hip contracture | |
| Hypoplastic acetabulae | |
| Narrow pelvis | |
| Pelvic exostoses | |
| Constricted iliac wings | |
| Square pelvis | |
| Coxa magna | |
| Increased serum ferritin | |
| Low alkaline phosphatase | |
| Cystathioninemia | |
| Abnormality of mitochondrial metabolism | |
| Mitochondrial propionyl-CoA carboxylase (PCC) defect | |
| Decreased serum leptin | |
| Impaired FSH and LH secretion | |
| Hyperthreoninuria | |
| Hyperlysinuria | |
| Spina bifida occulta | |
| Ovoid vertebral bodies | |
| Irregular vertebral endplates | |
| Spondylolisthesis | |
| Spondylolysis | |
| Block vertebrae | |
| Spinal rigidity | |
| Hyperlordosis | |
| Cervical subluxation | |
| Ovoid thoracolumbar vertebrae | |
| Abnormality of the odontoid process | |
| Hypoplasia of the odontoid process | |
| Abnormal form of the vertebral bodies | |
| Butterfly vertebrae | |
| Cervical spine hypermobility | |
| Abnormality of the cervical spine | |
| C1-C2 subluxation | |
| Biconcave flattened vertebrae | |
| Progressive muscle weakness | |
| Generalized muscle weakness | |
| Limb-girdle muscle weakness | |
| Myalgia | |
| Axial muscle weakness | |
| Abnormal hair laboratory examination | |
| Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes | |
| Abnormal bone structure | |
| Absent primary metaphyseal spongiosa | |
| Increased serum beta-hexosaminidase | |
| Elevated circulating catecholamine level | |
| Low gonadotropins (secondary hypogonadism) | |
| Abnormal enchondral ossification | |
| Reduced prothrombin consumption | |
| Focal necrosis of right ventricular muscle cells | |
| Pyrimidine-responsive megaloblastic anemia | |
| Abnormal dermatological laboratory findings | |
| Junctional split | |
| Glutathione synthetase deficiency | |
| 3-Methylglutaric aciduria | |
| Elevated urinary norepinephrine | |
| Impaired lymphocyte transformation with phytohemagglutinin | |
| Hyperalaninemia | |
| Low cholesterol esterification rates | |
| Decreased circulating renin level | |
| Endopolyploidy on chromosome studies of bone marrow | |
| Propionyl-CoA carboxylase deficiency | |
| Hyperthreoninemia | |
| Aminoaciduria | |
| Thymic hormone decreased | |
| Elevated intracellular cystine | |
| Decreased urinary sulfate | |
| Tryptophanuria | |
| Increased circulating very-low-density lipoprotein cholesterol | |
| Abdominal situs inversus | |
| Arthralgia of the hip | |
| Abnormality of the femoral neck or head region | |
| Abnormality of the femoral neck | |
| Abnormality of the femoral head | |
| Flat capital femoral epiphysis | |
| Enlargement of the proximal femoral epiphysis | |
| Narrow greater sacrosciatic notches | |
| Steppage gait | |
| Axonal degeneration/regeneration | |
| Decreased number of peripheral myelinated nerve fibers | |
| Hypertrophic nerve changes | |
| Onion bulb formation | |
| Peripheral axonal atrophy | |
| Decreased number of large peripheral myelinated nerve fibers | |
| Easy fatigability | |
| Sensory axonal neuropathy | |
| Gowers sign | |
| First dorsal interossei muscle weakness | |
| Thenar muscle atrophy | |
| Muscle cramps | |
| Syringomyelia | |
| Generalized hypotonia due to defect at the neuromuscular junction | |
| Abnormality of the neuromuscular junction | |
| Basal lamina 'onion bulb' formation | |
| Paresthesia | |
| Decreased miniature endplate potentials | |
| EMG | |
| Diffuse axonal swelling | |
| Peripheral nerve compression | |
| Distal sensory impairment of all modalities | |
| Irregular proximal femoral metaphyses | |
| Atlantoaxial abnormality | |
| Atlantoaxial dislocation | |
| Spinal canal stenosis | |
| Coronal cleft vertebrae | |
| Back pain | |
| Low back pain | |
| Platyspondyly (childhood) | |
| Vertebral segmentation defect | |
| Thoracolumbar kyphoscoliosis | |
| First dorsal interossei muscle atrophy | |
| Thenar muscle weakness | |
| CNS hypomyelination | |
| Decreased motor nerve conduction velocity | |
| Sensory ataxic neuropathy | |
| Cold-induced hand cramps | |
| Prolonged miniature endplate currents | |
| Absent Achilles reflex | |
| Horizontal sacrum | |
| Decreased size of nerve terminals | |
| EMG | |
| EMG | |
| Axonal loss | |
| Decreased sensory nerve conduction velocity | |
| Cold-induced muscle cramps | |
| Axonal regeneration | |
| Increased rate of premature chromosome condensation | |
| Increased serum iron | |
| Antineutrophil antibody positivity | |
| Platelet antibody positive | |
| Elevated long chain fatty acids | |
| Low urinary cyclic AMP response to PTH administration | |
| EMG abnormality | |
| EMG | |
| Polyclonal elevation of IgM | |
| Total immunoglobulin A deficiency | |
| Increased urinary O-linked sialopeptides | |
| Elevated 8-dehydrocholesterol | |
| Increased extraneuronal autofluorescent lipopigment | |
| Abnormal cholesterol homeostasis | |
| Elevated 8(9)-cholestenol | |
| Paradoxical increased cortisol secretion on dexamethasone suppression test | |
| Atlantoaxial instability | |
| Abnormality of the vertebrae | |
| Peripheral dysmyelination | |
| Paralysis | |
| Hypocalcemic tetany | |
| Fatigable weakness | |
| Sensory impairment | |
| Peripheral axonal neuropathy | |
| Segmental peripheral demyelination/remyelination | |
| EMG | |
| Upper limb muscle weakness | |
| Babinski sign | |
| Acute episodes of neuropathic symptoms | |
| Defective dehydrogenation of isovaleryl CoA and butyryl CoA | |
| Elevated urine pyrophosphate | |
| High urinary gonadotropins (primary hypogonadism) | |
| Antinuclear antibody positivity | |
| Loss of heterozygosity, multiple chromosomes | |
| GM2-ganglioside accumulation | |
| Increased IgM level | |
| Disproportionate short stature | |
| Mild short stature | |
| Proportionate short stature | |
| Severe short stature | |
| Reduced ratio of renal calcium clearance to creatinine clearance | |
| Deficiency or absence of cytochrome b(-245) | |
| Birth length greater than 97th percentile | |
| Disproportionate short-trunk short stature | |
| Decreased methionine synthase activity | |
| Orotic acid crystalluria | |
| Hyperprostaglandinuria | |
| Elevated calcitonin | |
| Parathormone-independent increased renal tubular calcium reabsorption | |
| Glutaric acidemia | |
| Ornithinuria | |
| Delayed oxidation of acetaldehyde | |
| Reduced xanthine dehydrogenase activity | |
| 3-Methylglutaconic aciduria | |
| Decreased fumarate hydratase activity | |
| Hypouricemia | |
| Increased serum iduronate sulfatase activity | |
| Impaired platelet aggregation | |
| Urinary glycosaminoglycan excretion | |
| Increased serum pyruvate | |
| Exercise intolerance | |
| Shoulder girdle muscle weakness | |
| Subsarcolemmal accumulations of abnormally shaped mitochondria | |
| Abnormality of connective tissue | |
| Predominantly lower limb lymphedema | |
| Difficulty climbing stairs | |
| Muscle stiffness | |
| Cellulitis due to immunodeficiency | |
| Type 2 muscle fiber atrophy | |
| Muscle fiber splitting | |
| Increased variability in muscle fiber diameter | |
| Viral infection-induced rhabdomyolysis | |
| Muscle hyperirritability | |
| Muscular dystrophy | |
| Birth length less than 3rd percentile | |
| Abnormal metaphyseal vascular invasion | |
| Hypobetalipoproteinemia | |
| Folate-dependent fragile site at Xq28 | |
| Elevated erythrocyte sedimentation rate | |
| Increased serum prostaglandin E2 | |
| Decreased glucosephosphate isomerase activity | |
| Molybdenum cofactor deficiency | |
| Propionicacidemia | |
| Low plasma citrulline | |
| Increased total bilirubin | |
| Positive regitine blocking test | |
| Increased intracellular sodium | |
| Congenital onset | |
| Adult onset | |
| Late onset | |
| Insidious onset | |
| Infantile onset | |
| Middle age onset | |
| Absent urinary urothione | |
| 4-Hydroxyphenylacetic aciduria | |
| Foam cells with lamellar inclusion bodies | |
| Fibroblast metachromasia | |
| Positive ferric chloride test | |
| Antiphospholipid antibody positivity | |
| Trimethylaminuria | |
| Premature separation of centromeric heterochromatin | |
| Juvenile onset | |
| Neonatal onset | |
| Generalized amyoplasia | |
| Loss of subcutaneous adipose tissue in limbs | |
| Reduced 4-Hydroxyphenylpyruvate dioxygenase activity | |
| Elevated urinary epinephrine | |
| Foam cells in visceral organs and CNS | |
| Hemoglobinuria | |
| Type I transferrin isoform profile | |
| Sulfite oxidase deficiency | |
| Prolonged partial thromboplastin time | |
| Bicarbonaturia | |
| Electron transfer flavoprotein-ubiquinone oxidoreductase defect | |
| Lacticaciduria | |
| Abnormality of glycoside metabolism | |
| Foam cells | |
| Recurrent myoglobinuria | |
| Cellular metachromasia | |
| Reduced dihydropyrimidine dehydrogenase activity | |
| Reduced activity of N-acetylglucosaminyltransferase II | |
| Decreased beta-glucocerebrosidase protein and activity | |
| Granular osmiophilic deposits (GROD) in cells | |
| Hypomethioninemia | |
| Amyotrophy of the musculature of the pelvis | |
| Onset | |
| Progressive disorder | |
| Slow progression | |
| Rapidly progressive | |
| Pace of progression | |
| Nonprogressive disorder | |
| Variable progression rate | |
| Large beaked nose | |
| Centrally nucleated skeletal muscle fibers | |
| Decreased activity of cytochrome C oxidase in muscle tissue | |
| Multiple mitochondrial DNA deletions | |
| Limb muscle weakness | |
| Scapular winging | |
| Distal amyotrophy | |
| Late-onset proximal muscle weakness | |
| Absent epiphysis of the distal phalanx of the 5th finger | |
| Scapuloperoneal amyotrophy | |
| Difficulty standing | |
| Generalized amyotrophy | |
| Proximal muscle weakness | |
| Scapuloperoneal weakness | |
| Calf muscle pseudohypertrophy | |
| Exercise-induced muscle cramps | |
| Muscle hypertrophy | |
| Muscle fiber necrosis | |
| Myofibrillar myopathy | |
| Generalized muscular appearance from birth | |
| Minimal subcutaneous fat | |
| Muscle mounding | |
| Generalized muscle hypertrophy | |
| Neck flexor weakness | |
| Shoulder girdle muscle atrophy | |
| Firm muscles | |
| Enteroviral dermatomyositis syndrome | |
| EMG | |
| Quadriceps muscle weakness | |
| Thigh hypertrophy | |
| Autophagic vacuoles | |
| Mitochondrial myopathy | |
| Exercise-induced myalgia | |
| Myoclonic spasms | |
| Myotonia with warm-up phenomenon | |
| Congenital muscular dystrophy | |
| Genetic anticipation | |
| Genetic anticipation with paternal anticipation bias | |
| Sporadic | |
| Pelvic girdle muscle weakness | |
| Increased muscle fatiguability | |
| Episodic flaccid weakness | |
| Type 1 fibers relatively smaller than type 2 fibers | |
| Skeletal myopathy | |
| Reduced subcutaneous adipose tissue | |
| Hypoplasia of lymphatic vessels | |
| Percussion-induced rapid rolling muscle contractions (PIRC) | |
| Calcinosis | |
| Uterus didelphys | |
| Bruxism | |
| Nevus | |
| Psoriasis | |
| Periodic paralysis | |
| Pulp stones | |
| Stage 5 chronic kidney disease | |
| Pili torti | |
| Short mandibular rami | |
| Antegonial notching of mandible | |
| Excessive salivation | |
| Eunuchoid habitus | |
| Externally rotated/abducted legs | |
| Type 1 collagen overmodification | |
| Decreased CSF homovanillic acid (HVA) | |
| Type 1 and type 2 muscle fiber minicore regions | |
| Minicore (multicore) myopathy | |
| Deposits immunoreactive to beta-amyloid protein | |
| Short middle phalanx of toe | |
| Irregular iliac crest | |
| Limb-girdle muscle atrophy | |
| Nemaline bodies | |
| Marked delay in bone age | |
| Muscle abnormality related to mitochondrial dysfunction | |
| Type 1 muscle fiber predominance | |
| Rimmed vacuoles | |
| Abnormal muscle tone | |
| Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) | |
| Late-onset distal muscle weakness | |
| Neonatal death | |
| Phenotypic variability | |
| Death in childhood | |
| Stillbirth | |
| Variable expressivity | |
| Incomplete penetrance | |
| Age-dependent penetrance | |
| Abnormality of the tibial plateaux | |
| Laterally deficient tibial plateaux | |
| Shoulder dislocation | |
| Shoulder subluxation | |
| Stippled calcification of the shoulder | |
| Soft-tissue ossification around the shoulders | |
| Abnormality involving the epiphyses of the upper limbs | |
| Delayed upper limb epiphyseal ossification | |
| Fragmented epiphyses of the upper limbs | |
| Irregular epiphyses of the upper limbs | |
| Round epiphyses of the upper limbs | |
| Small epiphyses of the upper limbs | |
| Wide epiphyseal plates of the upper limbs | |
| Cupped metaphyses of the upper limbs | |
| Flared metaphyses of the upper limbs | |
| Irregular metaphyses of the upper limbs | |
| Lytic defects in metaphyses of the upper limbs | |
| Normal density transverse bands in metaphyses of the upper limbs | |
| Sclerosis with transverse striations in metaphyses of the upper limbs | |
| Sclerosis of metaphyses of the upper limbs | |
| Spurred metaphyses of the upper limbs | |
| Upper limb metaphyseal widening | |
| Cortical diaphyseal irregularity of the upper limbs | |
| Cortical diaphyseal thickening of the upper limbs | |
| Diaphyseal sclerosis of the upper limbs | |
| Broad diaphyses of the upper limbs | |
| Absent humerus | |
| Angulated humerus | |
| Bifid humerus | |
| Bowed humerus | |
| Coarse trabeculae (humeral) | |
| Cortical irregularity (humeral) | |
| Cortical thickening (humeral) | |
| Cortical thinning (humeral) | |
| Crumpled humerus | |
| Deformed humerus | |
| Exostoses (humeral) | |
| Humerus varus | |
| Lytic defects (humeral) | |
| Osteoporotic humerus | |
| Oval transradiancy (humeral) | |
| Periosteal new bone (humeral) | |
| Pseudarthrosis (humeral) | |
| Sclerotic foci of the humerus | |
| Humeral sclerosis | |
| Slender humerus | |
| Tapered humerus | |
| Triangular humerus | |
| Undermodeled humerus | |
| Wide humerus | |
| Abnormality of the humeral heads | |
| Flattened humeral heads | |
| Abnormality of the deltoid tuberosities | |
| Prominent deltoid tuberosities | |
| Abnormality of the humeral epiphysis | |
| Absent humeral epiphyseal ossification | |
| Advanced ossification of the humeral epiphysis | |
| Delayed humeral epiphyseal ossification | |
| Flattened humeral epiphyses | |
| Irregular humeral epiphyses | |
| Irregular ossification of the humeral epiphyses | |
| Large humeral epiphyses | |
| Round humeral epiphyses | |
| Small humeral epiphyses | |
| Stippled calcification of the humeral epiphyses | |
| Epiphyseal stippling of the humerus | |
| Broad humeral epiphyses | |
| Wide epiphyses of the upper limbs | |
| Abnormality of the humeral epiphyseal plate | |
| Broad humeral epiphyseal plate | |
| Abnormality of the humeral metaphyses | |
| Corner spurs (humeral metaphyses) | |
| Cortical subperiosteal resorption (humeral metaphyses) | |
| Enlarged humeral metaphyses | |
| Flared humeral metaphysis | |
| Frayed humeral metaphyses | |
| Irregular humeral metaphyses | |
| Irregular ossification of humeral metaphyses | |
| Lytic defects of the humeral metaphsis | |
| Normal-density transverse bands (humerus) | |
| Pointed humeral metaphysis | |
| Sclerotic humeral metaphysis | |
| Sclerotic humeral metaphysis with longitudinal striations | |
| Sloping humeral metaphysis | |
| Laterally sloping humeral metaphysis | |
| Spurred humeral metaphysis | |
| Square humeral metaphysis | |
| Stippled calcification of humeral metaphysis | |
| Abnormality of the humeral diaphysis | |
| Cortical irregularity of humeral diaphysis | |
| Cortical thickening of humeral diaphysis | |
| Ground glass opacity of humeral diaphysis | |
| Lytic defects of humeral diaphysis | |
| Periosteal new bone (humeral diaphysis) | |
| Sclerotic foci of humeral diaphysis | |
| Sclerosis of humeral diaphysis | |
| Slender humeral diaphysis | |
| Wide humeral diaphysis | |
| Synostosis involving the elbow | |
| Humeroulnar synostosis | |
| Osteoarthritis of the elbow | |
| Stippled calcification of the elbow | |
| Synovial chondromatosis of the elbow | |
| Abnormality of the joint spaces of the elbow | |
| Narrow joint spaces of the elbow | |
| Irregular articular surfaces of the elbow joints | |
| Abnormality of the epiphyses of the elbow | |
| Delayed elbow epiphyseal ossification | |
| Irregular epiphyses of the elbow | |
| Abnormality of the elbow metaphyses | |
| Flared metaphyses (elbow) | |
| Irregular metaphyses (elbow) | |
| Sclerotic foci of metaphyses of the elbow | |
| Absent forearm bone | |
| Angulated forearm bones | |
| Bone-in-a-bone appearance (forearm) | |
| Bowed forearm bones | |
| Cortical thickening of the forearm bones | |
| Cross-fusion of the forearm bones | |
| Deformed forearm bones | |
| Exostoses of the forearm bones | |
| Fractured forearm bones | |
| Lytic defects of the forearm bones | |
| Osteoporotic forearm bones | |
| Pseudarthrosis of the forearm bones | |
| Sclerotic foci in forearm bones | |
| Sclerotic forearm bones | |
| Slender forearm bones | |
| Undermodelled forearm bones | |
| Broad forearm bones | |
| Wide radioulnar joints | |
| Absent radius | |
| Chevron-shaped/cone-shaped radius | |
| Constricted radius | |
| Deformed radius | |
| Fractured radius | |
| Lytic defects of the radius | |
| Pseudarthrosis of the radius | |
| Broad radius | |
| Absent ulna | |
| Posteriorly dislocated ulna | |
| Exostoses of the ulna | |
| Exostoses of the radius | |
| Fractured ulna | |
| Long ulna | |
| Notched ulna | |
| Pointed ulna | |
| Osteosclerosis of the ulna | |
| Slender ulna | |
| Broad ulna | |
| Dislocated wrist | |
| Abnormality of the radial head | |
| Flattened radial head | |
| Hypoplastic radial head | |
| Constricted radial neck | |
| Abnormality of radial epiphyses | |
| Chevron-shaped/cone-shaped radial epiphyses | |
| Medially deficient radial epiphyses | |
| Flattened radial epiphyses | |
| Medially flattened radial epiphyses | |
| Irregular radial epiphyses | |
| Large radial epiphyses | |
| Round radial epiphyses | |
| Sclerotic radial epiphyses | |
| Sloping radial epiphyses | |
| Medially sloping radial epiphyses | |
| Small radial epiphyses | |
| Premature fusion of the radial epiphyseal plates | |
| Medially fused radial epiphyseal plates | |
| Broad radial epiphyseal plate | |
| Abnormality of radial metaphyses | |
| Cupped radial metaphyses | |
| Exostoses of the radial metaphysis | |
| Flared radial metaphyses | |
| Irregular radial metaphysis | |
| Irregular ossification of the radial metaphysis | |
| Lytic defects of radial metaphysis | |
| Sclerotic radial metaphysis with longitudinal striations | |
| Sloping radial metaphysis | |
| Medially sloping radial metaphysis | |
| Spurred radial metaphysis | |
| Broad radial metaphysis | |
| Abnormality of radial diaphysis | |
| Spurs of radial diaphysis | |
| Lytic defects of radial diaphysis | |
| Patchy sclerosis of radial diaphysis | |
| Broad radial diaphysis | |
| Abnormality of the olecranon | |
| Curved olecranon | |
| Irregular olecranon | |
| Abnormality of the styloid process of ulna | |
| Long styloid process of ulna | |
| Abnormality of the ulnar epiphyses | |
| Bony spikule of ulnar epiphyseal plate | |
| Abnormality of ulnar metaphysis | |
| Corner fragments of ulnar metaphysis | |
| Cupped ulnar metaphysis | |
| Irregular ulnar metaphysis | |
| Lytic defects of ulnar metaphysis | |
| Pointed ulnar metaphysis | |
| Sloping ulnar metaphysis | |
| Spurred ulnar metaphysis | |
| Wide ulnar metaphysis | |
| Narrow joint spaces of wrist | |
| Decreased carpal angles of wrist | |
| Absent hand | |
| Advanced ossification of the hand bones | |
| Delayed ossification of the hand bones | |
| Dysharmonic maturation of the hand bones | |
| Sclerosis of hand bone | |
| Mitten deformity | |
| Monodactyly (hands) | |
| Radial club hand | |
| Trident hand | |
| Laterally deviated thumb phalanges | |
| Laterally deviated terminal thumb phalanx | |
| Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis | |
| Curved fingers | |
| Deviation of finger | |
| Macrodactyly | |
| Abnormality of the 2nd finger | |
| Radially deviated index finger phalanges | |
| Midline nasal groove | |
| Radially displaced proximal index finger phalanx | |
| Midline defect of the nose | |
| Dimple on nasal tip | |
| Metaphyseal abnormality of middle phalanx of the 2nd finger | |
| Flared metaphysis of middle phalanx of index finger | |
| Radially deviated terminal index finger phalanx | |
| Duplication of terminal index finger phalanx | |
| Abnormality of the 3rd finger | |
| Overgrowth of middle finger | |
| Accessory middle-finger phalanges | |
| Periosteal new bone of middle finger phalanges | |
| Radially pointed middle finger phalanges | |
| Radially pointed proximal middle-finger phalanx | |
| Abnormality of the middle phalanx of the 3rd finger | |
| Accessory middle phalanx of middle finger | |
| Periosteal new bone of middle phalanx of middle-finger | |
| Short distal phalanx of the 3rd finger | |
| Abnormality of the epiphyses of the terminal phalanx of the middle finger | |
| Cone-shaped epiphysis of terminal phalanx of the middle finger | |
| Fused epiphysis of terminal phalanx of the middle finger | |
| Large epiphysis of terminal phalanx of the middle finger | |
| Prematurely fused epiphysis of terminal phalanx of the middle finger | |
| Abnormality of the 4th finger | |
| Bracket epiphyses of the 4th finger | |
| Expanded phalanges of the ring finger | |
| Hypoplastic phalanges of the ring finger | |
| Osteolytic defects of the phalanges of the 4th finger | |
| Short phalanges of the ring finger | |
| Symphalangism of the 4th finger | |
| Wide/broad phalanges of the ring finger | |
| Expanded proximal phalanx of the ring finger | |
| Lytic defects of the proximal phalanx of the ring finger | |
| Short proximal phalanx of the ring finger | |
| Abnormality of the 5th finger | |
| Clinodactyly of the 5th finger | |
| Abnormality of the phalanges of the 5th finger | |
| Curved phalanges of the 5th finger | |
| Osteolytic defects of the phalanges of the 5th finger | |
| Symphalangism of the 5th finger | |
| Abnormality of the middle phalanx of the 5th finger | |
| Short middle phalanx of the 5th finger | |
| Cone-shaped epiphysis of the distal phalanx of the 5th finger | |
| Ivory epiphysis of the distal phalanx of the 5th finger | |
| Abnormality of the epiphysis of the middle phalanx of the 5th finger | |
| Abnormality of the distal phalanx of the 5th finger | |
| Curved distal phalanx of the 5th finger | |
| Short distal phalanx of the 5th finger | |
| Subluxation of the proximal interphalangeal joint of the little finger | |
| Carpal bone aplasia | |
| Accessory carpal bones | |
| Advanced ossification of carpal bones | |
| Bone-in-a-bone appearance of carpal bones | |
| Comma-shaped carpal bones | |
| Irregular carpal bones | |
| Large carpal bones | |
| Lytic defects of carpal bones | |
| Proximally placed carpal bones | |
| Sclerotic foci within carpal bones | |
| Stippled calcification in carpal bones | |
| Broad carpal bones | |
| Abnormality of the scaphoid | |
| Accessory scaphoid | |
| Comma-shaped scaphoid | |
| Delayed ossification of the scaphoid | |
| Small scaphoid | |
| Abnormality of the lunate bone | |
| Accessory lunate | |
| Proximally placed lunate | |
| Lunate-triquetral fusion | |
| Abnormality of the trapezium | |
| Absent trapezium | |
| Delayed ossification of the trapezium | |
| Small trapezium | |
| Abnormality of the trapezoid bone | |
| Delayed ossification of the trapezoid bone | |
| Small trapezoid bone | |
| Abnormality of the hamate bone | |
| Large hamate bone | |
| Wide hamate bone | |
| Abnormality of the capitate bone | |
| Large capitate bone | |
| Narrow carpal joint spaces | |
| Narrow small joints of the hand | |
| Osteoarthritis of the small joints of the hand | |
| Subluxation of the small joints of the hand | |
| Cortical thickening of hand bones | |
| Cortical thinning of hand bones | |
| Cupped metaphyses of hand bones | |
| Deficient ossification of hand bones | |
| Duplication of hand bones | |
| Exostoses of hand bones | |
| Fractured hand bones | |
| Synostosis involving bones of the hand | |
| Short palm | |
| Irregular ossification of hand bones | |
| Irregular sclerosis of hand bones | |
| Narrow palm | |
| Notched hand bones | |
| Overmodelled hand bones | |
| Patchy sclerosis of hand bones | |
| Pointed hand bones | |
| Pseudoepiphyses of hand bones | |
| Sclerotic foci in hand bones | |
| Sclerosis of hand bones with transverse striations | |
| Stippled calcification of hand bones | |
| Undermodelled hand bones | |
| Synostosis of second metacarpal-trapezoid | |
| Subluxation of metacarpal phalangeal joints | |
| Abnormality of the gastric mucosa | |
| Abnormality of gastrointestinal vasculature | |
| Abnormality of the biliary system | |
| Abnormality of the abdominal wall | |
| Hernia of the abdominal wall | |
| Functional motor problems. | |
| Abnormality of muscle fibers | |
| Involuntary movements | |
| Abnormality of the endocardium | |
| Abnormal anatomic location of the heart | |
| Ventricular arrhythmia | |
| Ventricular preexcitation | |
| Abnormality of macrophages | |
| Abnormality of reticulocytes | |
| Hypogammaglobulinemia | |
| IgG deficiency | |
| Hypoaldosteronism | |
| Vaginal fistula | |
| Bladder fistula | |
| Short stature | |
| Abnormality of body weight | |
| Increased body weight | |
| Decreased body weight | |
| Cachexia | |
| Abnormality of the vitreous humor | |
| Abnormality of the anterior segment of the eye | |
| Abnormality of the posterior segment of the eye | |
| Increased skull ossification | |
| Decreased skull ossification | |
| Abnormality of lymphocytes | |
| Bone-marrow foam cells | |
| Dermal atrophy | |
| Myelin outfoldings | |
| Abnormality of amino acid metabolism | |
| Abnormality of aromatic amino acid family metabolism | |
| Abnormality of sulfur amino acid metabolism | |
| Abnormality of vitamin B metabolism | |
| Abnormality of the vitamin B12 metabolism | |
| Abnormality of galactoside metabolism | |
| Abnormality of glycosphingolipid metabolism | |
| Abnormality of cerebrosidase metabolism | |
| Abnormality of ganglioside metabolism | |
| Weakness of muscles of respiration | |
| Abnormality of bone mineral density | |
| Reduced bone mineral density | |
| Abnormality of purine metabolism | |
| Abnormality of pyrimidine metabolism | |
| Abnormality of carboxylic acid metabolism | |
| Abnormality of proteoglycan metabolism | |
| Abnormality of lysosomal metabolism | |
| Abnormality of leucine metabolism | |
| Abnormality of superoxide metabolism | |
| Abnormality of fatty-acid metabolism | |
| Abnormality of acid-base homeostasis | |
| Abnormality of circulating leptin level | |
| Abnormality of the enteric ganglia | |
| Abnormality of calcium homeostasis | |
| Abnormality of nitrogen compound homeostasis | |
| Abnormality of tryptophan metabolism | |
| Abnormality of glycolysis | |
| Abnormality of glycoprotein metabolism | |
| Increased purine levels | |
| Decreased purine levels | |
| Abnormality of temperature regulation | |
| Abnormality of glycosaminoglycan metabolism | |
| Reduced consciousness/confusion | |
| Focal dystonia | |
| Hemiplegia/hemiparesis | |
| Neoplasm of the nervous system | |
| Neuroblastic tumors | |
| Hematological neoplasm | |
| Abnormality of the anus | |
| Abnormality of alkaline phosphatase activity | |
| Aortic valve calcification | |
| Supravalvular aortic stenosis | |
| Mitral valve calcification | |
| Hypoplastic left heart | |
| Type I truncus arteriosus | |
| Protracted diarrhea | |
| Gastrointestinal inflammation | |
| Enterocolitis | |
| Microcolon | |
| Intestinal pseudo-obstruction | |
| Hamartomatous polyps | |
| Prune belly | |
| Multiple gastric polyps | |
| Malnutrition | |
| Poor appetite | |
| Ectopic anus | |
| Peptic ulcer | |
| Congenital pyloric atresia | |
| Abnormality of the pylorus | |
| Meconium ileus | |
| Proximal esophageal atresia | |
| Abnormality of the nipple | |
| Prominent nipples | |
| Spontaneous, recurrent epistaxis | |
| Bony paranasal bossing | |
| Abnormality of the sense of smell | |
| Hyposmia | |
| Deviated nasal septum | |
| Abnormality of the pulmonary artery | |
| Pulmonary artery stenosis | |
| Precocious atherosclerosis | |
| Intermittent claudication | |
| Thrombophlebitis | |
| Recurrent thrombophlebitis | |
| Arterial thrombosis | |
| Elevated systolic blood pressure | |
| Biparietal narrowing | |
| Cranium bifidum occultum | |
| Flat forehead | |
| Abnormality of the cheeks | |
| Elfin facies | |
| Recurrent viral infections | |
| Severe combined immunodeficiency | |
| Complement deficiency | |
| Agammaglobulinemia | |
| Secretory IgA deficiency | |
| C8 deficiency | |
| Cranial hyperostosis | |
| Hyperostosis frontalis interna | |
| Craniofacial dysostosis | |
| Coronal craniosynostosis | |
| Sagittal craniosynostosis | |
| Lambdoidal craniosynostosis | |
| Spherocytosis | |
| Elliptocytosis | |
| Stomatocytosis | |
| Poikilocytosis | |
| Fulminant hepatic failure | |
| Preauricular skin furrow | |
| Postauricular skin tag | |
| Abnormality of the middle ear ossicles | |
| Overfolding of the superior helices | |
| Abnormal middle ear reflexes | |
| Dilatated internal auditory canal | |
| Exostosis of the external auditory canal | |
| Congenital earlobe sinuses | |
| Absent brainstem auditory responses | |
| Postauricular pit | |
| Prolonged brainstem auditory evoked potentials | |
| Preauricular pit | |
| Anomalous tracheal cartilage | |
| Chronic bronchitis | |
| Atretic occipital cephalocele | |
| Aplasia cutis congenita over the scalp vertex | |
| Mandibular hyperostosis | |
| Persistent open anterior fontanelle | |
| Aplasia cutis congenita over parietal area | |
| Ethmoidal encephalocele | |
| Progressive macrocephaly | |
| Relative macrocephaly | |
| Craniofacial asymmetry | |
| Cessation of head growth | |
| Acrobrachycephaly | |
| Macrocephaly at birth | |
| Calvarial hyperostosis | |
| Large posterior fontanelle | |
| Widely patent fontanelles and sutures | |
| Craniofacial hyperostosis | |
| Thin anteverted nares | |
| Posterior choanal atresia | |
| Chronic rhinitis due to narrow nasal airway | |
| Bilateral choanal atresia | |
| Pancreatic islet-cell hyperplasia | |
| Long eyebrows | |
| Temporal hypotrichosis | |
| large clumps of pigment irregularly distributed along hair shaft | |
| Generalized hypotrichosis | |
| Atrophic, patchy alopecia | |
| Sacral hypertrichosis | |
| Anterior cervical hypertrichosis | |
| Congenital, generalized hypertrichosis | |
| Pointed frontal hairline | |
| Scarring alopecia of scalp | |
| Generalized hypertrichosis | |
| Anterior vertebral fusion | |
| Cervical platyspondyly | |
| Beaking of vertebral bodies T12-L3 | |
| increased spinal bone density | |
| Severe platyspondyly | |
| Pear-shaped vertebrae | |
| Beaking of vertebral bodies | |
| Increased vertebral height | |
| Widening of cervical spinal canal | |
| Anterior wedging of T11 | |
| fusion of midcervical facet joints | |
| Sclerotic vertebral endplates | |
| Anterior scalloping of vertebral bodies | |
| Increased anterior vertebral height | |
| Irregularity of vertebral bodies | |
| Biconcave vertebral bodies | |
| Dysplasia of second lumbar vertebra | |
| Hypoplastic sacrum | |
| Disc-like vertebral bodies | |
| Thoracic platyspondyly | |
| hump-shaped mound of bone in central and posterior portions of vertebral endplate | |
| Supernumerary vertebral ossification centers | |
| Absent or minimally ossified vertebral bodies | |
| Spina bifida occulta at L5 | |
| Cervical vertebral fusion (C2/C3) | |
| Hyperconvex vertebral body endplates | |
| Absent vertebral body mineralization | |
| Unossified vertebral bodies | |
| Anterior beaking of lower thoracic vertebrae | |
| Anteriorly placed odontoid process | |
| Patchy distortion of vertebrae | |
| Lumbar spinal canal stenosis | |
| Anterior concavity of thoracic vertebrae | |
| cervical spine segmentation defects | |
| spina bifida occulta at S1 | |
| Cleft vertebral arch | |
| Butterfly vertebral arch | |
| Sandwich appearance of vertebral bodies | |
| Lumbar kyphoscoliosis | |
| Enlarged vertebral pedicles | |
| Progressive intervertebral space narrowing | |
| Biconvex vertebral bodies | |
| Lumbar scoliosis | |
| Small cervical vertebral bodies | |
| Anterior beaking of thoracic vertebrae | |
| Decreased cervical spine flexion due to contractures of posterior cervical muscles | |
| cervical segmentation defects | |
| Lower thoracic kyphosis | |
| Cuboid-shaped vertebral bodies | |
| Cervical vertebrae fusion (C5/C6) | |
| Decreased cervical spine mobility | |
| Elevated amniotic fluid alpha-fetoprotein | |
| Hypoplasia of the nasal bone | |
| Hypoplasia of facial musculature | |
| Frontalis muscle weakness | |
| Facial midline hemangioma | |
| Decreased facial expression | |
| prominent supraorbital arches in adult | |
| Large tarsal bones | |
| Deep longitudinal plantar crease | |
| Talipes valgus | |
| Short third metatarsal | |
| Irregular tarsal bones | |
| Short fourth metatarsal | |
| Thickened Achilles tendon | |
| 2-3 toe syndactyly | |
| 4-5 toe syndactyly | |
| Calcaneal epiphyseal stippling | |
| Talipes cavus equinovarus | |
| Osteoporotic metatarsal | |
| Short fifth metatarsal | |
| Renal malrotation | |
| Reversible renal failure | |
| Axial malrotation of the kidney | |
| Hyperechogenic kidneys | |
| Thickening of the glomerular basement membrane | |
| Calcium nephrolithiasis | |
| Impaired renal concentrating ability | |
| Acute tubulointerstitial nephritis | |
| Impaired renal uric acid clearance | |
| Renal cortical microcysts | |
| Crossed fused renal ectopia | |
| Global glomerulosclerosis | |
| Abnormality of the renal collecting system | |
| Chronic tubulointerstitial nephritis | |
| Dense deposit disease | |
| Atrial flutter | |
| Paroxysmal ventricular tachycardia | |
| Congenital atrioventricular dissociation | |
| Permanent atrial fibrillation | |
| Supraventricular tachycardia | |
| Ventricular tachycardia | |
| Paroxysmal atrial fibrillation | |
| Effort-induced polymorphic ventricular tachycardias | |
| Nodular calcific aortic valve disease | |
| Congenital septal defect | |
| Post-angioplasty coronary artery restenosis | |
| Hypoplasia of right ventricle | |
| Paroxysmal supraventricular tachycardia | |
| Myxomatous mitral valve degeneration | |
| Episodic supraventricular tachycardia | |
| Sparse anterior scalp hair | |
| Premature graying of body hair | |
| Brittle scalp hair | |
| Elbow hypertrichosis | |
| Hypotrichosis of the scalp | |
| Duodenal polyposis | |
| Juvenile gastrointestinal polyposis | |
| Malrotation of colon | |
| Jejunal diverticula | |
| Fulminant hepatitis | |
| Intestinal lymphedema | |
| Lactose intolerance | |
| Hypoplasia of the small intestine | |
| Esophageal ulceration | |
| Rectoperineal fistula | |
| Malrotation of small bowel | |
| Hamartomatous stomach polyps | |
| Gastrointestinal obstruction | |
| Multiple small bowel atresias | |
| Recurrent infection of the gastrointestinal tract | |
| Jejunoileal diverticula | |
| Duodenal diverticula | |
| Episodic hemolytic anemia | |
| Congenital hemolytic anemia | |
| Acute myeloid leukemia | |
| Neonatal alloimmune thrombocytopenia | |
| Congenital hypoplastic anemia | |
| Pre-B-cell acute lymphoblastic leukemia | |
| Post-transfusion thrombocytopenia | |
| Fava bean-induced hemolytic anemia | |
| Drug-sensitive hemolytic anemia | |
| Paroxysmal nocturnal hemoglobinuria | |
| Normocytic hypoplastic anemia | |
| Acute myelomonocytic leukemia | |
| Hypersegmentation of neutrophil nuclei | |
| Atypical elliptocytosis | |
| Anisopoikilocytosis | |
| Increased hemoglobin oxygen affinity | |
| Folate-unresponsive megaloblastic anemia | |
| Refractory anemia with ringed sideroblasts | |
| Recurrent thromboembolism | |
| Microspherocytosis | |
| Acute promyelocytic leukemia | |
| Pyropoikilocytosis | |
| Hypochromic microcytic anemia | |
| Reduced factor XII activity | |
| Coombs-positive hemolytic anemia | |
| Acute monocytic leukemia | |
| Prolonged bleeding after surgery | |
| Ph-positive acute lymphoblastic leukemia | |
| Recurrent deep vein thrombosis | |
| Folate-responsive megaloblastic anemia | |
| Reduced leukocyte alkaline phosphatase | |
| Intermittent thrombocytopenia | |
| Reduced protein S activity | |
| Normochromic microcytic anemia | |
| Hyperchromic macrocytic anemia | |
| Amegakaryocytic thrombocytopenia | |
| Thiamine-responsive megaloblastic anemia | |
| refractory macrocytic anemia | |
| Compensated hemolytic anemia | |
| Refractory sideroblastic anemia | |
| Impaired ADP-induced platelet aggregation | |
| Chronic hemolytic anemia | |
| Perineal fistula | |
| Incisional hernia | |
| Neonatal inspiratory stridor | |
| Spontaneous neonatal pneumothorax | |
| Intercostal muscle weakness | |
| intermittent hyperventilation | |
| Respiratory infections in early life | |
| Episodic hypoventilation | |
| Episodic respiratory distress | |
| Congenital laryngeal stridor | |
| Respiratory failure requiring assisted ventilation | |
| Intermittent episodes of respiratory insufficiency due to muscle weakness | |
| Elevated pulmonary artery pressure | |
| Recurrent infections due to aspiration | |
| Laryngotracheal stenosis | |
| Stress/infection-induced lactic acidosis | |
| Persistent lactic acidosis | |
| Severe lactic acidosis | |
| Exercise-induced lactic acidemia | |
| Congenital lactic acidosis | |
| Maturity-onset diabetes of the young | |
| Vitamin A deficiency | |
| hypernatremic dehydration | |
| hypokalemic hypochloremic metabolic alkalosis | |
| Bicarbonate-wasting renal tubular acidosis | |
| Episodic metabolic acidosis | |
| Hypophosphatemic rickets | |
| Intermittent lactic acidemia | |
| Recurrent infantile hypoglycemia | |
| Impairment of galactose metabolism | |
| Generalized distal tubular acidosis | |
| hyperchloremic metabolic acidosis | |
| Galactose intolerance | |
| Phenylpyruvic acidemia | |
| Abnormality of magnesium homeostasis | |
| Atypical hyperphenylalaninemia | |
| Hyperphenylalaninemia | |
| Abnormal oral glucose tolerance | |
| Chronic lactic acidosis | |
| Orthostatic hypotension due to autonomic dysfunction | |
| Pulmonary artery dilatation | |
| Peripheral arterial stenosis | |
| Coronary atherosclerosis | |
| Abnormality of the pulmonary vasculature | |
| Arteriosclerosis of small cerebral arteries | |
| Ascending aortic dissection | |
| Vascular calcification | |
| Pulmonary artery atresia | |
| Venous thrombosis | |
| Pulmonary artery aneurysm | |
| Tortuous cerebral arteries | |
| Generalized arterial calcification | |
| Extrahepatic portal hypertension | |
| Aortic aneurysm | |
| Accelerated atherosclerosis | |
| Cerebral aneurysm | |
| Extracranial internal carotid artery dissection | |
| Arteriovenous fistula | |
| Vascular tortuosity | |
| Peripheral arterial disease | |
| Pulmonary arteriovenous fistulas | |
| Abdominal aortic aneurysm | |
| Descending aortic aneurysm | |
| Generalized arterial tortuosity | |
| Dilatation of the descending thoracic aorta | |
| Absent pulmonary artery | |
| Pulmonary artery sling | |
| Thoracic aorta calcification | |
| Calcification of the aorta | |
| Pulmonary arterial medial hypertrophy | |
| Medial calcification of large arteries | |
| Recurrent cerebral hemorrhage | |
| Peripheral pulmonary artery stenosis | |
| Ascending aortic dilation | |
| Pulmonary artery hypoplasia | |
| Elevated mean arterial pressure | |
| Coarctation of abdominal aorta | |
| Erlenmeyer flask deformity of the femurs | |
| Knee dislocation | |
| Bilateral radial aplasia | |
| Metaphyseal sclerosis | |
| Metaphyseal rarefaction | |
| Prominent styloid process of ulna | |
| obsolete Rudimentary to absent fibulae | |
| Mesomelic leg shortening | |
| Epiphyseal streaking | |
| Rhizomelic arm shortening | |
| Slender long bones with narrow diaphyses | |
| Multicentric ossification of proximal humeral epiphyses | |
| Recurrent patellar dislocation | |
| Aplasia/Hypoplasia of the capital femoral epiphysis | |
| Flattened proximal radial epiphyses | |
| Femoral bowing present at birth, straightening with time | |
| Large joint dislocations | |
| Dumbbell-shaped humerus | |
| osteomyelitis leading to amputation due to slow healing fractures | |
| Mesomelic arm shortening | |
| Dysplastic distal radial epiphyses | |
| Polyarticular chondrocalcinosis | |
| Diaphyseal thickening | |
| Bilateral elbow dislocations | |
| Hypoplastic distal humeri | |
| mesomelic/rhizomelic limb shortening | |
| Widened proximal tibial metaphyses | |
| Distal ulnar hypoplasia | |
| Shortening of all phalanges of the toes | |
| Unilateral ulnar hypoplasia | |
| Proximal radio-ulnar synostosis | |
| Multiple long-bone exostoses | |
| Irregular capital femoral epiphysis | |
| Irregular, rachitic-like metaphyses | |
| irregular proximal humeral metaphyses | |
| Diaphyseal cortical sclerosis | |
| Synostosis of carpal bones | |
| Anterolateral radial head dislocation | |
| Metaphyseal spurs | |
| arthralgia/arthritis | |
| limited elbow flexion/extension | |
| Fragmented, irregular epiphyses | |
| Cone-shaped epiphyses fused within their metaphyses | |
| Proximal fibular overgrowth | |
| Absent styloid process of ulna | |
| rhizo-meso-acromelic limb shortening | |
| Proximal radial head dislocation | |
| Hyperextensibility at wrists | |
| Anterior radial head dislocation | |
| limited knee flexion/extension | |
| Knee osteoarthritis | |
| Abnormal metaphyseal trabeculation | |
| Lateral femoral bowing | |
| Streaky metaphyseal sclerosis | |
| Absent proximal radial epiphyses | |
| Distal femoral bowing | |
| Severe hydrops fetalis | |
| premature birth following premature rupture of fetal membranes | |
| High-frequency hearing impairment | |
| Cochlear degeneration | |
| Calcification of the auricular cartilage | |
| Hypoplastic nasal septum | |
| Abnormal nasal morphology | |
| Abnormality of the vertebral endplates | |
| Abnormality of the sacrum | |
| Abnormality of the intervertebral disk | |
| Abnormality of the Achilles tendon | |
| Atrial fibrillation | |
| Dilatation of the ascending aorta | |
| Dilatation of the abdominal aorta | |
| Dilatation of the aortic arch | |
| Abnormalities of the peripheral arteries | |
| Supraventricular arrhythmia | |
| Arterial tortuosity | |
| Elevated diastolic blood pressure | |
| Abnormality of cardiac atrium | |
| Posterior scalloping of vertebral bodies | |
| Congenital hypertrophy of left ventricle | |
| Restrictive heart failure | |
| Pericardial constriction | |
| Right ventricular dilatation | |
| Absence of the pulmonary valve | |
| EKG | |
| Premature calcification of mitral annulus | |
| Episodes of ventricular tachycardia | |
| Anomalous origin of right pulmonary artery from ascending aorta | |
| Left ventricular septal hypertrophy | |
| Coronary artery stenosis | |
| Cardiac valve calcification | |
| Bidirectional ventricular ectopy | |
| Pulmonary valve defects | |
| Abnormal atrioventricular conduction | |
| Preductal coarctation of the aorta | |
| Oncocytic cardiomyopathy | |
| Ventricular escape rhythms | |
| Hypoplastic left atrium | |
| Concentric hypertrophic cardiomyopathy | |
| Total anomalous pulmonary venous return | |
| Impaired left ventricular function | |
| Dysplastic pulmonary valve | |
| Shortened PR interval | |
| Elevated right atrial pressure | |
| Complete heart block with broad RS complexes | |
| Left postterior fascicular block | |
| Calcific aortic valve stenosis | |
| Membranous subvalvular aortic stenosis | |
| Dysplastic aortic valve | |
| Premature arteriosclerosis | |
| Complete heart block with narrow QRS complexes | |
| Tricuspid regurgitation | |
| Premature coronary artery disease | |
| Bicuspid pulmonary valve | |
| Pericardial lymphangiectasia | |
| Prolonged QTc interval | |
| Global systolic dysfunction | |
| Synovial hypertrophy | |
| Progressive joint destruction | |
| Proximal finger joint hyperextensibility | |
| Congenital knee dislocation | |
| Restricted large joint movement | |
| Flattened metatarsal heads | |
| Polyarticular arthropathy | |
| Generalized morning stiffness | |
| Stiff interphalangeal joints | |
| Aplasia of the abdominal wall musculature | |
| Retroperitoneal fibrosis | |
| Anomalous splenoportal venous system | |
| Helicobacter pylori infection | |
| Spontaneous esophageal perforation | |
| Pancreatic pseudocyst | |
| Gastric hypertrophy | |
| Secretory diarrhea | |
| Intrahepatic bile duct cysts | |
| Hypoplastic colon | |
| Midgut malrotation | |
| Anal mucosal leukoplakia | |
| Pancreatic calcification | |
| Intestinal obstruction | |
| Frequent Giardia lamblia infestation | |
| Chewing difficulties | |
| Duplication of internal organs | |
| Anoperineal fistula | |
| Absence of intrinsic factor | |
| Multiple intestinal neurofibromatosis | |
| Bowel diverticulosis | |
| Duplicated colon | |
| Rectal abscess | |
| Intestinal edema | |
| Adenomatous colonic polyposis | |
| Jejunoileal ulceration | |
| Biliary tract obstruction | |
| Chronic gastritis | |
| Pancreatic dysplasia | |
| Hypoplasia of the gallbladder | |
| Neonatal intestinal obstruction | |
| Jejunal atresia | |
| Chronic calcifying pancreatitis | |
| Degenerative liver disease | |
| Discrete intestinal polyps | |
| Esophageal obstruction | |
| Total intestinal aganglionosis | |
| Extrahepatic biliary duct atresia | |
| Partial abdominal muscle agenesis | |
| Gastrointestinal infarctions | |
| Intestinal hypoplasia | |
| Giant hypertrophic gastritis | |
| Hypoplasia of the abdominal wall musculature | |
| Intrahepatic biliary atresia | |
| Functional intestinal obstruction | |
| High intestinal obstruction | |
| Increased anterioposterior diameter of thorax | |
| Unilateral chest hypoplasia | |
| Absence of pectoralis minor muscle | |
| Unilateral absence of pectoralis major muscle | |
| Thoracic hypoplasia | |
| Pectoral muscle hypoplasia/aplasia | |
| Abnormal facility in opposing the shoulders | |
| Joint hemorrhage | |
| Abnormality of the synovia | |
| Gastritis | |
| Abnormality of the gallbladder | |
| Abnormality of the jejunum | |
| Intestinal polyp | |
| Premature delivery because of cervical insufficiency or membrane fragility | |
| Spontaneous abortion | |
| Prominent nasolabial fold | |
| Absent nasal septal cartilage | |
| Prominent nasal tip | |
| Cartilaginous ossification of nose | |
| Hypoplastic nasal tip | |
| Depressed nasal bridge | |
| Hypoplastic nasal bridge | |
| Absent nasal bridge | |
| Abnormality of the nares | |
| Abnormality of the nasolabial region | |
| Internal carotid artery hypoplasia | |
| Inflammatory arteriopathy | |
| Intimal thickening in the coronary arteries | |
| Venous insufficiency | |
| Arterial dissection | |
| Pseudocoarctation of the aorta | |
| Occlusive vascular disease | |
| Premature occlusive vascular disease | |
| Atrioventricular canal defect with right ventricle aorta and pulmonary atresia | |
| Premature peripheral vascular disease | |
| Nodular inflammatory vasculitis | |
| Persistent left superior vena cava | |
| Carotid artery tortuosity | |
| Aortic arch calcification | |
| Hypoplastic pulmonary veins | |
| Cerebral venous thrombosis | |
| Capillary hemangiomas | |
| Postural hypotension with compensatory tachycardia | |
| Pulmonary artery vasoconstriction | |
| Peripheral vascular insufficiency | |
| Large vessel vasculitis | |
| Agenesis of pulmonary vessels | |
| Pulmonary aterial intimal fibrosis | |
| Arterial fibromuscular dysplasia | |
| Anomalous branches of internal carotid artery | |
| Occlusive arterial disease | |
| Peripheral pulmonary vessel aplasia | |
| Increased pulmonary vascular resistance | |
| Cerebral vasculitis | |
| Lack of facial subcutaneous fat | |
| Mandibulofacial dysostosis | |
| Prominent nasal septum | |
| Hemifacial hypertrophy | |
| Disturbance of facial expression | |
| Extension of hair growth on temples to lateral eyebrow | |
| Hypoplastic philtrum | |
| Loss of facial expression | |
| Progeroid facial appearance | |
| Fixed facial expression | |
| Recurrent mandibular subluxations | |
| Sleepy facial expression | |
| Forehead hyperpigmentation | |
| Sparse lateral eyebrow | |
| Abnormality of complement system | |
| Spastic/hyperactive bladder | |
| Autonomic bladder dysfunction | |
| Hypoplasia of the bladder | |
| Abnormality of the carotid arteries | |
| Abnormality of the vena cava | |
| Abnormal facial expression | |
| Cartilaginous trachea | |
| Inspiratory stridor | |
| Hypoplasia of the epiglottis | |
| Severe T-cell immunodeficiency | |
| Susceptibility to herpesvirus | |
| Absent cellular immunity | |
| Decreased serum complement factor I | |
| Defective B cell differentiation | |
| Aplasia of the thymus | |
| Susceptibility to chickenpox | |
| Partial humoral immunodeficiency | |
| Severe viral infections | |
| Severe B lymphocytopenia | |
| Recurrent streptococcus pneumoniae infections | |
| Abnormality of humoral immunity | |
| Decreased serum complement factor H | |
| Abnormality of B cell physiology | |
| Cellular immunodeficiency | |
| Partial cellular immunodeficiency | |
| Recurrent Haemophilus influenzae infections | |
| Severe T lymphocytopenia | |
| Recurrent meningococcal disease | |
| Defective B cell activation | |
| Recurrent protozoan infections | |
| Combined immunodeficiency | |
| Depletion of components of the alternative complement pathway | |
| Recurrent opportunistic infections | |
| Susceptibility to coronavirus 229e | |
| Exaggerated cellular immune processes | |
| Reduction of neutrophil motility | |
| Recurrent candida infections | |
| Primary T-lymphocyte immune abnormalities | |
| T lymphocytopenia | |
| Increase in B cell number | |
| Recurrent bacterial skin infections | |
| Decreased number of CD4+ T cells | |
| Markedly reduced T cell function | |
| Chronic intestinal candidiasis | |
| Increased alpha-globulin | |
| Decreased number of CD8+ T cells | |
| Decreased serum complement factor B | |
| Decreased T cell activation | |
| Recurrent gram-negative bacterial infections | |
| Decreased serum complement C3 | |
| Absence of CD8+ T cells | |
| Dysfunctional alternative complement pathway | |
| Absent specific antibody response | |
| Recurrent sinopulmonary infections | |
| Severe recurrent varicella | |
| Recurrent systemic pyogenic infections | |
| Recurrent Neisserial infections | |
| Transient hypogammaglobulinemia of infancy | |
| Impaired T cell function | |
| Recurrent infections in infancy and early childhood | |
| Maxillozygomatic hypoplasia | |
| Sclerotic cranial sutures | |
| Widely patent coronal suture | |
| Widened posterior fossa | |
| Obtuse angle of mandible | |
| Bridged sella turcica | |
| Calvarial osteosclerosis | |
| Decreased cranial base ossification | |
| Obliteration of frontal sinuses | |
| Absent/hypoplastic paranasal sinuses | |
| Absent ethmoidal sinuses | |
| Premature closure of fontanelles | |
| Craniofacial disproportion | |
| Calcification of falx cerebri | |
| Elongated sella turcica | |
| Craniofacial osteosclerosis | |
| Facial hyperostosis | |
| Frontal bone hypoplasia | |
| Flat occiput | |
| Orbital craniosynostosis | |
| Fusion of middle ear ossicles | |
| Decreased calvarial ossification | |
| Widely patent sagittal suture | |
| Progressive sclerosis of skull base | |
| Prominent frontal sinuses | |
| IgE deficiency | |
| Abnormality of the alternate complement pathway | |
| Abnormality of the epiglottis | |
| Postnatal microcephaly | |
| Small fontanelle | |
| Prominent metopic ridge | |
| Postnatal macrocephaly | |
| Premature posterior fontanelle closure | |
| Metopic suture patent to nasal root | |
| Midline skin dimples over anterior/posterior fontanelles | |
| Increased red cell osmotic fragility | |
| Refractory anemia | |
| Chronic myelogenous leukemia | |
| Hemoglobin Barts | |
| Waldenstrom macroglobulinemia | |
| Transient erythroblastopenia | |
| Heinz body anemia | |
| Impaired neutrophil killing of staphylococci | |
| Increased megakaryocyte count | |
| T-cell lymphoma/leukemia | |
| Erythrocyte macrocytosis | |
| Chronic disseminated intravascular coagulation | |
| Disseminated intravascular coagulation | |
| Pyridoxine-responsive sideroblastic anemia | |
| Lymphoproliferative disorder | |
| Macrocytic hemolytic disease | |
| Spontaneous hemolytic crises | |
| Lymphoid leukemia | |
| Reduced kininogen activity | |
| Bone marrow hypocellularity | |
| Biphenotypic acute leukaemia | |
| Macrocytic dyserythropoietic anemia | |
| Transient myeloproliferative syndrome | |
| Exercise-induced hemolysis | |
| Decreased mean platelet volume | |
| T-cell chronic lymphocytic lymphoma/leukemia | |
| Red blood cell keratocytosis | |
| Congenital agranulocytosis | |
| Prolonged whole-blood clotting time | |
| Reduced protein C activity | |
| Increased red cell osmotic resistance | |
| Myeloproliferative disorder | |
| Megakaryocytopenia | |
| Congenital neutropenia | |
| Chronic lymphatic leukemia | |
| Abnormality of the metopic suture | |
| Abnormality of the zygomatic arch | |
| Chronic leukemia | |
| Abnormality of the kinin-kallikrein system | |
| Imbalanced hemoglobin synthesis | |
| Abnormality of bone marrow cell morphology | |
| Multiple renal cysts | |
| Decreased numbers of nephrons | |
| Absence of renal corticomedullary differentiation | |
| Reduced renal corticomedullary differentiation | |
| Renal magnesium wasting | |
| Increased renal tubular phosphate reabsorption | |
| Decreased renal tubular phosphate excretion | |
| Non-acidotic proximal tubulopathy | |
| Hemolytic-uremic syndrome | |
| Tubulointerstitial fibrosis | |
| Impaired reabsorption of chloride | |
| Duplication of renal pelvis | |
| Tubular basement membrane disintegration | |
| Renal cell carcinoma | |
| Spotty hyperpigmentation | |
| Hyperpigmentation in sun-exposed areas | |
| Profuse pigmented skin lesions | |
| Patchy palmoplantar keratoderma | |
| Spotty hypopigmentation | |
| Giant melanosomes in melanocytes | |
| Macular hypopigmented whorls, streaks, and patches | |
| Generalized hyperkeratosis | |
| Congenital alopecia totalis | |
| Facial telangiectasia in butterfly midface distribution | |
| Hypopigmentation of hair | |
| Congenital giant melanocytic nevus | |
| Progressive vitiligo | |
| Numerous congenital melanocytic nevi | |
| Large cafe-au-lait macules with irregular margins | |
| Hyperpigmented nevi and streak | |
| Abnormality of the tracheobronchial system | |
| Bilobate gallbladder | |
| Gallbladder dysfunction | |
| Arthrogryposis-like hand anomaly | |
| Aplasia/hypoplasia of the femur | |
| Accelerated skeletal maturation | |
| Bilateral camptodactyly | |
| Thoracolumbar kyphosis | |
| Hypermobility of interphalangeal joints | |
| Trapezoidal shaped vertebral bodies | |
| Broad long bones | |
| Absent ossification of calvaria | |
| Osteoporosis of vertebrae | |
| Posterior fusion of lumbosacral vertebrae | |
| Type D brachydactyly | |
| Absent forearm | |
| Decreased anterioposterior diameter of lumbar vertebral bodies | |
| Hyperextensible hand joints | |
| Abnormal vertebral segmentation and fusion | |
| Short 3rd toe | |
| Intervertebral disk calcification | |
| Bilateral ulnar hypoplasia | |
| Cutaneous syndactyly between fingers 2 and 5 | |
| Cortical sclerosis | |
| Moderate generalized osteoporosis | |
| Multiple digital exostoses | |
| Positional foot deformity | |
| Thoracic kyphoscoliosis | |
| Salmonella osteomyelitis | |
| Massively thickened long bone cortices | |
| Os odontoideum | |
| Bilateral intracranial calcifications | |
| Rudimentary postaxial polydactyly of hands | |
| Anterior atlanto-occipital dislocation | |
| Dupuytren contracture | |
| Tongue-like lumbar vertebral deformities | |
| Juvenile rheumatoid arthritis | |
| Talocalcaneal synostosis | |
| Distal arthrogryposis | |
| Patchy osteosclerosis | |
| Deformed humeral heads | |
| Dysplastic distal thumb phalanges with a central hole | |
| Dermatoglyphic ridges abnormal | |
| Joint hyperflexibility | |
| Partial fusion of proximal row of carpal bones | |
| Postaxial polydactyly type A | |
| Increased bone density with cystic changes | |
| Multiple enchondromatosis | |
| Bilateral triphalangeal thumbs | |
| 2-3 toe cutaneous syndactyly | |
| Flattened knee epiphyses | |
| Lethal skeletal dysplasia | |
| Shortening of all metacarpals | |
| Hyperextensible thumb | |
| Shoe-shaped sella turcica | |
| Nonopposable triphalangeal thumb | |
| Thumbs hypoplastic with bulbous tips | |
| Cortical irregularity | |
| Spinal stenosis with reduced interpedicular distance | |
| Short tibia | |
| Posterior subluxation of radial head | |
| Avascular necrosis of the capital femoral epiphysis | |
| Generalized osteoporosis with pathologic fractures | |
| Congenital foot contractures | |
| Osteosclerosis of the base of the skull | |
| Easily subluxated first metacarpophalangeal joints | |
| Contractures of the joints of the lower limbs | |
| Flattened moderately deformed vertebrae | |
| Neonatal epiphyseal stippling | |
| Basilar impression | |
| Small flat posterior fossa | |
| Polyarticular arthritis | |
| Sacral meningocele | |
| Disproportionate shortening of the tibia | |
| 1-2 toe complete cutaneous syndactyly | |
| 2-4 toe cutaneous syndactyly | |
| Fifth finger distal phalanx clinodactyly | |
| Aplasia/Hypoplasia of the tibia | |
| Short forearm | |
| Multiple skeletal anomalies | |
| Carpal bone malsegmentation | |
| Absent fourth finger distal interphalangeal crease | |
| Contractures of the large joints | |
| Lumbar platyspondyly | |
| Abnormal cervical myelogram | |
| Generalized osteosclerosis | |
| Short mandibular condyles | |
| Cortical thickening of long bone diaphyses | |
| Short humerus | |
| Shortening of all distal phalanges of the toes | |
| Arterial disease of legs | |
| Posterior radial head dislocation | |
| Coalescence of tarsal bones | |
| Absent distal phalanges | |
| Supernumerary ribs | |
| Postaxial polysyndactyly of foot | |
| Short middle phalanx of finger | |
| Superior rib anomalies | |
| Clinodactyly of the 2nd toe | |
| Mixed sclerosis of humeral metaphyses | |
| Transient pulmonary infiltrates | |
| Maldevelopment of radioulnar joint | |
| Flexion contracture of toe | |
| Type B brachydactyly | |
| Dysharmonic delayed bone age | |
| Joint swelling onset late infancy | |
| Thumbs hypo/aplastic | |
| Joint dislocations in young adult | |
| Calcific stippling of infantile cartilaginous skeleton | |
| Rounded middle phalanx of finger | |
| Bifid thumb distal phalanx | |
| Diffuse cerebral calcification | |
| Congenital talipes calcaneovalgus | |
| Limited elbow extension and supination | |
| Congenital foot contraction deformities | |
| Multiple prenatal fractures | |
| Ulnar radial head dislocation | |
| Cervical spina bifida | |
| Type E brachydactyly | |
| Pseudoarthrosis | |
| Opposable triphalangeal thumb | |
| Fused fourth and fifth metacarpals | |
| Metaphyseal enchondromatosis | |
| Metaphyseal chondrodysplasia | |
| Brachytelomesophalangy | |
| Polysyndactyly of hallux | |
| Increased dermatoglyphic whorls | |
| Progressive flexion contractures | |
| Multiple small vertebral fractures | |
| Enlarged sagittal diameter of the cervical canal | |
| Congenital finger flexion contractures | |
| Metacarpophalangeal synostosis | |
| Spinal instability | |
| Dermatoglyphic variants | |
| Absent ossification of cervical vertebral bodies | |
| Aphalangy of the hands | |
| Hyperostosis cranialis interna | |
| Progressive forearm bowing | |
| Proximal tibial and fibular fusion | |
| Double first metacarpals | |
| Radial deviation of thumb terminal phalanx | |
| Severe osteoporosis | |
| Metaphyseal dysostosis | |
| Fifth metacarpal with ulnar notch | |
| Chronic recurrent multifocal osteomyelitis | |
| Abnormal cervical curvature | |
| Delayed pneumatization of the mastoid process | |
| Rhomboid or triangular shaped 5th finger middle phalanx | |
| Biliary atresia | |
| Abnormality of metacarpal epiphyses | |
| Aplasia/Hypoplasia involving the metacarpal bones | |
| Abnormal metacarpal morphology | |
| Supernumerary metacarpal bones | |
| Abnormality of phalanx of finger | |
| Abnormality of the epiphyses of the phalanges of the hand | |
| Abnormal ossification of hand bones | |
| Abnormal hand morphology | |
| Abnormalities of the metaphyses of the hand | |
| Abnormality of the epiphyses of the hand | |
| Abnormalities of the diaphyses of the hand | |
| Abnormalities of the cortex of hand bones | |
| Aplasia/hypoplasia involving bones of the hand | |
| Synostosis involving the fibula | |
| Synostosis involving the tibia | |
| Abnormality of the epiphyses | |
| Abnormal renal corticomedullary differentiation | |
| Imperfect vocal cord adduction | |
| Abnormal respiratory motile cilium morphology | |
| Multiple bilateral pneumothoraces | |
| Intermittent hyperpnea at rest | |
| Desquamative interstitial pneumonitis | |
| Respiratory arrest | |
| Bilateral lung agenesis | |
| Laryngeal obstruction | |
| Ventilator dependence with inability to wean | |
| Decreased sensitivity to hypoxemia | |
| Cystic lung disease | |
| Apneic episodes in infancy | |
| Laryngeal web | |
| Progressive inspiratory stridor | |
| Decreased pulmonary function | |
| Pulmonary capillary hemangiomatosis | |
| Anteroposteriorly shortened larynx | |
| Breathing dysregulation | |
| Impaired gluconeogenesis | |
| Hypoargininemia | |
| Intermittent hypothermia | |
| Mixed respiratory and metabolic acidosis | |
| Temperature instability | |
| Respiratory acidosis | |
| Fructose intolerance | |
| Episodic ketoacidosis | |
| Hyperkalemic metabolic acidosis | |
| Hypochloremic metabolic alkalosis | |
| Type II diabetes mellitus | |
| Metabolic ketoacidosis | |
| Reduced phenylalanine hydroxylase activity | |
| Elevated maternal serum alpha-fetoprotein | |
| Limitation of neck motion | |
| Multinodular goiter | |
| Congenital muscular torticollis | |
| Redundant neck skin | |
| Thyroid hypoplasia | |
| Limited neck flexion | |
| Nodular goiter | |
| Decreased adipose tissue around neck | |
| Restricted neck movement due to contractures | |
| Ureteral atresia | |
| Ureteral obstruction | |
| Hypotrophy of the small hand muscles | |
| Unilateral brachydactyly | |
| Broad phalanx | |
| Cuboidal metacarpal | |
| Widened metacarpal shaft | |
| Abnormally shaped carpal bones | |
| Delayed phalangeal epiphyseal ossification | |
| Reduced proximal interphalangeal joint space | |
| Rounded epiphyses | |
| Metaphyseal cupping of metacarpals | |
| Cone-shaped epiphyses of phalanges 2 to 5 | |
| Long second metacarpal | |
| Y-shaped metacarpals | |
| Short pointed phalanges | |
| Distal widening of metacarpals | |
| Metacarpal periosteal thickening | |
| Ulnar deviated club hands | |
| Cone-shaped metacarpal epiphyses | |
| Tombstone-shaped proximal phalanges | |
| Limited interphalangeal movement | |
| Multiple carpal ossification centers | |
| Severe carpal ossification delay | |
| Metacarpophalangeal joint contracture | |
| Absent proximal finger flexion creases | |
| Thin metacarpal cortices | |
| 1-5 finger complete cutaneous syndactyly | |
| Palmar hyperhidrosis | |
| Malaligned carpal bone | |
| Finger joint hypermobility | |
| Wide tufts of distal phalanges | |
| 3-4 finger syndactyly | |
| Metacarpophalangeal joint hyperextensibility | |
| Finger syndactyly | |
| Absent trapezoid bone | |
| Fingerpad telangiectases | |
| Tapered metacarpals | |
| Absent phalangeal crease | |
| Shortening of all middle phalanges of the fingers | |
| Expanded phalanges with widened medullary cavities | |
| Multiple palmar creases | |
| Shortening of all distal phalanges of the fingers | |
| Proximal tapering of metacarpals | |
| Acral ulceration leading to autoamputation of digits | |
| Long proximal phalanx of finger | |
| Drumstick terminal phalanges | |
| Enlarged metacarpal epiphyses | |
| Decreased finger mobility | |
| Bilateral postaxial polydactyly | |
| Premature fusion of phalangeal epiphyses | |
| Abnormal finger flexion creases | |
| Shortening of all proximal phalanges of the fingers | |
| Central Y-shaped metacarpal | |
| Broad metacarpal epiphyses | |
| Progressive fusion 2nd-5th pip joints | |
| Increased laxity of fingers | |
| Swan neck-like deformities of the fingers | |
| Proximal symphalangism (hands) | |
| Disharmonious carpal bone | |
| Long phalanx of finger | |
| Ulnar deviation of thumb | |
| Prominent palmar flexion creases | |
| Finger joint hyperextensibility | |
| Mesoaxial hand polydactyly | |
| Irregular metacarpals | |
| Short metacarpals with rounded proximal ends | |
| Soft tissue swelling of interphalangeal joints | |
| Enlarged metacarpophalangeal joints | |
| Proportionate shortening of all digits | |
| Tubular metacarpal bones | |
| Prominent proximal interphalangeal joints | |
| Decreased mobility 3rd-5th fingers | |
| Chess-pawn distal phalanges | |
| Flattened, squared-off epiphyses of tubular bones | |
| Metacarpal diaphyseal endosteal sclerosis | |
| Proximal phalangeal periosteal thickening | |
| Two carpal ossification centers present at birth | |
| Pseudoepiphyses of second metacarpal | |
| Crowded carpal bones | |
| Decreased palmar creases | |
| Enlarged proximal interphalangeal joints | |
| Fusion of midphalangeal joints | |
| Prominent interdigital folds | |
| Radially deviated wrists | |
| Deep palmar crease | |
| Tapered phalanx of finger | |
| Thimble-shaped middle phalanges of hand | |
| Widened distal phalanges | |
| Hypermobility of distal interphalangeal joints | |
| Osteolysis of scaphoids | |
| Decreased movement range in interphalangeal joints | |
| Irregular phalanges | |
| Hypersegmentation of proximal phalanx of second finger | |
| Partial fusion of carpals | |
| Metaphyseal cupping of proximal phalanges | |
| Partial-complete absence of 5th phalanges | |
| Postaxial oligodactyly | |
| Thin proximal phalanges with broad epiphyses | |
| Single interphalangeal crease of fifth finger | |
| Limited mobility of proximal interphalangeal joint | |
| Tapering pointed ends of distal finger phalanges | |
| Osteoarthritis of the first carpometacarpal joint | |
| Valgus hand deformity | |
| Unilateral oligodactyly | |
| Expanded metacarpals with widened medullary cavities | |
| Osteoarthritis of the distal interphalangeal joint | |
| Osteolysis involving tarsal bones | |
| Slender metacarpals | |
| Prominent interphalangeal joints | |
| Shortening of all middle phalanges of the toes | |
| Phalangeal dislocations | |
| Enlarged interphalangeal joints | |
| Limited wrist movement | |
| Limited wrist extension | |
| Interphalangeal joint erosions | |
| Swelling of proximal interphalangeal joints | |
| Elevated alpha-fetoprotein | |
| Abnormality of hand joint mobility | |
| Abnormality of carpal bone ossification | |
| Abnormality of phalangeal joints of the hand | |
| Aplasia/Hypoplasia of the 5th finger | |
| Abnormality of the epiphyses of the 2nd finger | |
| Aplasia/Hypoplasia of the 2nd finger | |
| Aplasia/Hypoplasia of fingers | |
| Small placenta | |
| Large placenta | |
| Fluctuating splenomegaly | |
| Hypoplastic spleen | |
| Pancreatic lymphangiectasis | |
| Reduced pancreatic beta cells | |
| Hyperechogenic pancreas | |
| Pancreatic hyperplasia | |
| Ectopic pancreatic tissue | |
| Beta-cell dysfunction | |
| Chronic pancreatitis | |
| Generalized hypoplasia of dental enamel | |
| Multiple unerupted teeth | |
| Hypomineralization of enamel | |
| Yellow-brown discoloration of the teeth | |
| Advanced eruption of teeth | |
| Agenesis of central incisor | |
| Discolored lateral incisors | |
| Marked delay in eruption of permanent teeth | |
| Abnormality of dental eruption | |
| Agenesis of maxillary central incisor | |
| Hypoplasia of dental enamel | |
| Prolonged bleeding after dental extraction | |
| Dagger-shaped pulp calcifications | |
| Widely-spaced incisors | |
| Atrophy of alveolar ridges | |
| Generalized microdontia | |
| Widely spaced primary teeth | |
| Single median maxillary incisor | |
| Irregularly spaced teeth | |
| Multiple non-erupting secondary teeth | |
| Premature loss of primary teeth | |
| Buried teeth encased in mucopolysaccharide | |
| Alveolar process hypoplasia | |
| Rotated maxillary central incisors | |
| Supernumerary maxillary incisor | |
| Crowded maxillary incisors | |
| Hypoplasia of the primary teeth | |
| Persistence of primary teeth | |
| Short dental roots | |
| Premature eruption of permanent teeth | |
| Malformation of mandibular premolar | |
| Conical mandibular incisor | |
| Peg-shaped maxillary lateral incisors | |
| Abnormality of primary molar morphology | |
| Screwdriver-shaped incisors | |
| Microdontia of primary teeth | |
| Agenesis of permanent teeth | |
| Obliteration of the pulp chamber | |
| Failure of eruption of permanent teeth | |
| Hypoplasia of the tooth germ | |
| Agenesis of mandibular central incisor | |
| Premature loss of permanent teeth | |
| Shovel-shaped maxillary central incisors | |
| Irregular femoral epiphyses | |
| Varus deformity of humeral neck | |
| Adductor longus contractures | |
| Crumpled long bones | |
| Forearm reduction defects | |
| Irregular patellae | |
| Distal ulnar epiphyseal stippling | |
| Broad long bone diaphyses | |
| Dumbbell-shaped femur | |
| Limited elbow flexion | |
| Osteolysis of patellae | |
| Proximal tibial hypopolasia | |
| Knee flexion contracture | |
| Rudimentary fibula | |
| Progressive bowing of long bones | |
| Club-shaped distal femur | |
| Short lower limbs | |
| Hypoplastic distal radial epiphyses | |
| Wide distal femoral metaphysis | |
| Limited knee flexion | |
| Anterior tibial bowing | |
| Overtubulated long bones | |
| Increased density of long bones | |
| Limited pronation/supination of forearm | |
| Lateral displacement of patellae | |
| Flat distal femoral epiphysis | |
| Absent knee epiphyses | |
| Distal shortening of limbs | |
| Club-shaped proximal femur | |
| Irregular distal femoral epiphysis | |
| Distal tapering femur | |
| Progressive leg bowing | |
| Broad tibial metaphyses | |
| Distal tibial bowing | |
| Cortically dense long tubular bones | |
| Broad femoral metaphyses | |
| Asymmetric radial dysplasia | |
| Peg-like central prominence of distal tibial metaphyses | |
| Elongated radius | |
| Rudimentary to absent tibiae | |
| Broad femoral neck | |
| Metaphyseal abnormalities of distal and proximal femurs | |
| Trapezoidal distal femoral condyles | |
| Dysplastic radii | |
| Hypoplasia of proximal radius | |
| Shortening of the tibia | |
| Disproportionate prominence of the femoral medial condyle | |
| Enlargement of the distal femoral epiphysis | |
| Radioulnar dislocation | |
| Increased density of long bone diaphyses | |
| Lateral humeral condyle aplasia | |
| Hypoplasia of proximal fibula | |
| Patellar aplasia | |
| Dysplastic patella | |
| Distal radial epiphyseal osteolysis | |
| Multicentric ossification of proximal femoral epiphyses | |
| Lateral displacement of the femoral head | |
| Delayed patellar ossification | |
| Irregular proximal tibial epiphyses | |
| Dorsal subluxation of ulna | |
| Increased laxity of ankles | |
| Proximal femoral epiphysiolysis | |
| Generalized bone demineralization | |
| Rickets of the lower limbs | |
| Periosteal thickening of long tubular bones | |
| Ankle contracture | |
| Limited shoulder movement | |
| Thin long bone diaphyses | |
| Fixed elbow flexion | |
| Anterior bowing of long bones | |
| Abnormality of the pancreatic islet cells | |
| Abnormality of the alveolar ridges | |
| Abnormality of the dental pulp | |
| Premature loss of teeth | |
| Abnormality of primary teeth | |
| Abnormality of dental morphology | |
| Abnormal number of teeth | |
| Agenesis of incisor | |
| Abnormality of the dental root | |
| Bowing of the long bones | |
| Bowing of the arm | |
| Abnormality of the femoral metaphysis | |
| Abnormality of lower-limb metaphyses | |
| Abnormality of the tibial metaphysis | |
| Aplasia/Hypoplasia of the fibula | |
| Aplasia/hypoplasia involving bones of the lower limbs | |
| Aplasia/Hypoplasia involving bones of the feet | |
| Aplasia/Hypoplasia of the ulna | |
| Aplasia/hypoplasia involving bones of the upper limbs | |
| Aplasia/Hypoplasia of the patella | |
| Abnormality of femoral epiphyses | |
| Abnormality involving the epiphyses of the lower limbs | |
| Aplasia/Hypoplasia of the radius | |
| Aplasia/Hypoplasia involving the carpal bones | |
| Aplasia/hypoplasia involving forearm bones | |
| Anomaly of the limb diaphyses | |
| Abnormality involving the epiphyses of the limbs | |
| Aplasia/hypoplasia of the humerus | |
| Abnormality of tibial epiphyses | |
| Diverticulosis of trachea | |
| Chronic obstructive pulmonary disease | |
| Laryngeal stridor | |
| Intraalveolar nodular calcifications | |
| Interstitial pneumonitis | |
| Hypersensitivity pneumonitis | |
| Alveolar proteinosis | |
| Pulmonary venoocclusive disease | |
| Alveolar cell carcinoma | |
| Progressive pulmonary function impairment | |
| Pulmonary lymphangiectasia | |
| Repeated pneumothoraces | |
| Tracheobronchial leiomyomatosis | |
| Lung segmentation defects | |
| Lymphoid interstitial pneumonia | |
| Chronic lung disease | |
| Abnormal pulmonary lymphatics | |
| Interstitial pulmonary disease | |
| Pleural lymphangiectasia | |
| Recurrent pneumonia | |
| Bronchodysplasia | |
| Recurrent intrapulmonary hemorrhage | |
| Obstructive lung disease | |
| Recurrent bronchopulmonary infections | |
| Bronchial cartilage hypoplasia | |
| Chronic obstructive airway disease from birth | |
| Cardiorespiratory arrest | |
| Extrapulmonary sequestrum | |
| Pulmonary arteriovenous malformation | |
| Unilateral primary pulmonary dysgenesis | |
| Fibrocystic lung disease | |
| Acute hepatic failure | |
| Diffuse hepatic steatosis | |
| Polycystic liver disease | |
| Decreased mitochondrial complex III activity in liver tissue | |
| Hepatic calcification | |
| Biliary hyperplasia | |
| Lipid accumulation in hepatocytes | |
| Viral hepatitis | |
| Malformation of the hepatic ductal plate | |
| Fluctuating hepatomegaly | |
| Increased hepatocellular lipid droplets | |
| Neonatal cholestatic liver disease | |
| Increased hepatic glycogen content | |
| Reduced number of intrahepatic bile ducts | |
| Subacute progressive viral hepatitis | |
| Acute hepatic steatosis | |
| Hepatic arteriovenous malformation | |
| Intrahepatic cholestasis with episodic jaundice | |
| Hepatic vascular malformations | |
| Macronodular cirrhosis | |
| Prolonged neonatal jaundice | |
| Portal fibrosis | |
| Depletion of mitochondrial DNA in liver | |
| Reye syndrome-like episodes | |
| Fatal liver failure in infancy | |
| Small abnormally formed scapulae | |
| Congenital pseudoarthrosis of the clavicle | |
| Straight clavicles | |
| Flaring of lower rib cage | |
| Premature sternal synostosis | |
| Absent glenoid fossa | |
| Anomalous rib insertion to vertebrae | |
| Scapulohumeral synostosis | |
| Restricted chest movement | |
| Diaphragmatic paralysis | |
| Irregular ossification at anterior rib ends | |
| Medial widening of clavicles | |
| Progressive calcification of costochondral cartilage | |
| Flared, irregular rib ends | |
| Irregular chondrocostal junctions | |
| Precocious costochondral ossification | |
| Midclavicular hypoplasia | |
| Wide intermamillary distance | |
| Decreased number of sternal ossification centers | |
| Absent in utero rib ossification | |
| Anterior rib punctate calcifications | |
| Costochondral joint sclerosis | |
| Multifocal breast carcinoma | |
| Absent sternal ossification | |
| Hypoplastic distal segments of scapulae | |
| Glenoid fossa hypoplasia | |
| Osteosclerosis of ribs | |
| Sternal punctate calcifications | |
| Midclavicular aplasia | |
| Multiple rib fractures | |
| Prominent floating ribs | |
| Large sternal ossification centers | |
| Fused sternal ossification centers | |
| Thoracic dysplasia | |
| Thin clavicles | |
| Costal cartilage calcification | |
| Congenital microthorax | |
| Costochondral pain | |
| Thickening of the lateral border of the scapula | |
| Rib segmentation abnormalities | |
| Hypoplasia of first ribs | |
| Internally rotated shoulders | |
| Aplastic clavicles | |
| Coat hanger sign of ribs | |
| Twelfth rib hypoplasia | |
| Impaired myocardial contractility | |
| Paroxysmal atrial tachycardia | |
| Reduced systolic function | |
| Prolonged QRS complex | |
| Granulomatous coronary arteritis | |
| Absent atrioventricular node | |
| Ventricular extrasystoles | |
| Abnormal ventricular filling | |
| Ventricular preexcitation with multiple accessory pathways | |
| Endocardial fibrosis | |
| Aortic tortuosity | |
| Paroxysmal tachycardia | |
| Bacterial endocarditis | |
| Myocardial calcification | |
| Pulmonic valve myxoma | |
| Short chordae tendineae of the tricuspid valve | |
| Myocardial steatosis | |
| Early progressive calcific cardiac valvular disease | |
| Atrioventricular canal defect | |
| Polymorphic and polytopic ventricular extrasystoles | |
| Ventricular aneurysm | |
| Ectopic supraventricular rhythms | |
| Spontaneous coronary artery dissection | |
| Aplasia/Hypoplasia of the lungs | |
| Abnormality of the coronary arteries | |
| Abnormality of the atrioventricular valves | |
| Cystic liver disease | |
| Abnormality of the hepatic vasculature | |
| Aplasia/Hypoplasia of the nipples | |
| Aplasia/Hypoplasia of the clavicles | |
| Aplasia/Hypoplasia involving bones of the thorax | |
| Aplasia/Hypoplasia of the ribs | |
| Aplasia/Hypoplasia of the scapulae | |
| Aplasia/Hypoplasia of the sternum | |
| Glomus tympanicum paraganglioma | |
| Hereditary nonpolyposis colorectal carcinoma | |
| Peripheral neuroepithelioma | |
| Benign gastrointestinal tract tumors | |
| Acute lymphatic leukemia | |
| Small intestine carcinoid | |
| Intestinal carcinoid | |
| Pancreatic adenocarcinoma | |
| T-cell acute lymphoblastic leukemias | |
| Retroperitoneal chemodectomas | |
| Follicular thyroid carcinoma | |
| Papillary renal cell carcinoma type 2 | |
| Acute megakaryocytic leukemia | |
| Renal cortical adenoma | |
| Extraadrenal pheochromocytoma | |
| Squamous cell carcinoma of the skin | |
| Transitional cell carcinoma of the bladder | |
| Congenital neuroblastoma | |
| Embryonal rhabdomyosarcoma | |
| Adrenocortical carcinoma | |
| Ganglioneuroblastoma | |
| Adrenal pheochromocytoma | |
| Malignant gastrointestinal tract tumors | |
| Paraspinal neurofibromas | |
| Neoplasm of the stomach | |
| Cutaneous leiomyosarcoma | |
| Diffuse leiomyomatosis | |
| Malignant genitourinary tract tumor | |
| Renal pelvic carcinoma | |
| Anal canal squamous carcinoma | |
| Chondrosarcoma | |
| Papillary renal cell carcinoma | |
| Pituitary prolactin cell adenoma | |
| Localized neuroblastoma | |
| Myxoid subcutaneous tumors | |
| Clear cell renal cell carcinoma | |
| Duodenal carcinoma | |
| Renal angiomyolipoma | |
| Cutaneous angiolipomas | |
| Ovarian papillary adenocarcinoma | |
| Multiple myeloma | |
| Benign genitourinary tract neoplasm | |
| Alveolar rhabdomyosarcoma | |
| Parathyroid carcinoma | |
| Hurthle cell thyroid adenoma | |
| Malignant eosinophil proliferation | |
| Posterior pharyngeal cleft | |
| Paranasal sinus hypoplasia | |
| Limb-girdle muscular dystrophy | |
| Mitochondrial encephalopathy | |
| Cerebral cortex with spongiform changes | |
| Loss of ability to walk in first decade | |
| Basal ganglia cysts | |
| Hyperactive deep tendon reflexes | |
| Abnormality of the anterior horn cell | |
| Vivid hallucinations | |
| Cerebral hypomyelination | |
| White mater abnormalities in the posterior periventricular region | |
| Hemiclonic seizures | |
| Aplasia/Hypoplasia of the cerebellar vermis | |
| Type I lissencephaly | |
| Polymicrogyria, anterior to posterior gradient | |
| Cranial nerve paralysis | |
| Pallor of dorsal columns of the spinal cord | |
| Atrophy of the spinal cord | |
| Severe muscular hypotonia | |
| Severe neonatal hypotonia in males | |
| Developmental stagnation at onset of seizures | |
| Congenital Horner syndrome | |
| Absent patellar reflexes | |
| Acute encephalopathy | |
| Hypodysplasia of the corpus callosum | |
| Hypoplasia of the ventral pons | |
| Symmetric spinal nerve root neurofibromas | |
| Episodic generalized hypotonia | |
| Cerebellar vermis atrophy | |
| Impaired distal proprioception | |
| Posterior leukoencephalopathy | |
| Intermittent cerebellar ataxia | |
| Severe expressive language delay | |
| Sensorimotor polyneuropathy affecting arms more than legs | |
| Midline central nervous system lipomas | |
| Lobar holoprosencephaly | |
| Cerebral hypoplasia | |
| Symmetrical progressive peripheral demyelination | |
| Mental retardation, in some | |
| Pontocerebellar atrophy | |
| Cerebellar hemangioblastoma | |
| Diffuse peripheral demyelination | |
| Severe hydrocephalus | |
| Impaired distal vibration sensation | |
| Intellectual disability, progressive | |
| Meningoencephalocele | |
| Intellectual disability, borderline | |
| Thick cerebral cortex | |
| Frontotemporal cerebral atrophy | |
| Severely dysplastic cerebellum | |
| Hypoplastic olfactory lobes | |
| Lower limb hypertonia | |
| Hypnopompic hallucinations | |
| Cranial nerve VI palsy | |
| Fusion of the cerebellar hemispheres | |
| Impaired thermal sensitivity | |
| Congenital peripheral neuropathy | |
| Late-onset spinocerebellar degeneration | |
| Congenital intracerebral calcification | |
| Frontal cortical atrophy | |
| Inability to walk by childhood/adolescence | |
| Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material | |
| Diffuse cerebral sclerosis | |
| Abnormal aggressive, impulsive or violent behavior | |
| Axial muscle stiffness | |
| Metachromatic leukodystrophy variant | |
| Unilateral polymicrogyria | |
| Hypoglycemic encephalopathy | |
| Frontoparietal cortical dysplasia | |
| Lipoma of corpus callosum | |
| Transient psychotic episodes | |
| Congenital nystagmus | |
| Impaired distal tactile sensation | |
| Impaired vibration sensation at ankles | |
| Diffuse spongiform leukoencephalopathy | |
| Abolished vibration sense | |
| Recurrent meningitis | |
| Episodic peripheral neuropathy | |
| Retrocerebellar cyst | |
| Olivopontocerebellar hypoplasia | |
| Dilation of lateral ventricles | |
| Loss of ability to walk | |
| Abnormal auditory evoked potentials | |
| Proximal spinal muscular atrophy | |
| Choroid plexus calcification | |
| Jerky head movements | |
| Gait instability, worse in the dark | |
| Cerebral cortical neurodegeneration | |
| Acute necrotizing encephalopathy | |
| Periventricular leukomalacia | |
| Necrotizing encephalopathy | |
| Grammar-specific speech disorder | |
| Dysmyelinating leukodystrophy | |
| Sleep-wake cycle disturbance | |
| Progressive leukoencephalopathy | |
| Slowly progressive spastic quadriparesis | |
| Distal sensory loss of all modalities | |
| Upper limb spasticity | |
| Alobar holoprosencephaly | |
| Dysplastic corpus callosum | |
| Myelin-dependent gliosis | |
| Anterior basal encephalocele | |
| Diffuse leukoencephalopathy | |
| Basal ganglia gliosis | |
| Morning myoclonic jerks | |
| Loss of Purkinje cells in the cerebellar vermis | |
| Motor axonal neuropathy | |
| Dorsal column degeneration | |
| Cavitation of the basal ganglia | |
| Central nervous system degeneration | |
| Poor fine motor coordination | |
| Fourth cranial nerve palsy | |
| Poor gross motor coordination | |
| Corticospinal tract hypoplasia | |
| Progressive forgetfulness | |
| Attention deficit hyperactivity disorder | |
| Progressive spastic paraplegia | |
| Pain insensitivity | |
| Antenatal intracerebral hemorrhage | |
| Pseudobulbar paralysis | |
| Poorly formed metencephalon | |
| Cerebral berry aneurysm | |
| Nonprogressive encephalopathy | |
| Cerebellar dysplasia | |
| Generalized hyperreflexia | |
| Anterior encephalocele | |
| Hypoplasia of olfactory tract | |
| Symmetric lesions of the basal ganglia | |
| Chronic lymphocytic meningitis | |
| Focal white matter lesions | |
| Midline brain calcifications | |
| Atrophy of the dentate nucleus | |
| Large basal ganglia | |
| Multifocal cerebral white matter abnormalities | |
| Hyperreflexia proximally | |
| Poor hand-eye coordination | |
| Generalized cerebral atrophy/hypoplasia | |
| Aplasia of the inferior half of the cerebellar vermis | |
| Progressive language deterioration | |
| Disorganization of the anterior cerebellar vermis | |
| Proximal limb muscle stiffness | |
| Distal peripheral sensory neuropathy | |
| Inferior vermis hypoplasia | |
| Profound static encephalopathy | |
| Thick corpus callosum | |
| Extrapyramidal muscular rigidity | |
| Decreased amplitude of sensory action potentials | |
| Late-onset muscular dystrophy | |
| Dilated third ventricle | |
| Hyperactive patellar reflex | |
| Social and occupational deterioration | |
| Involuntary jerking movements | |
| Facial-lingual fasciculations | |
| Frontoparietal polymicrogyria | |
| Hypoplasia of the optic tract | |
| Cranial nerve motor loss | |
| Paroxysmal choreoathetosis | |
| Arnold-Chiari type I malformation | |
| Progressive ventriculomegaly | |
| Hypointensity of cerebral white matter on MRI | |
| Prolonged somatosensory evoked potentials | |
| Infantile encephalopathy | |
| Segmental peripheral demyelination | |
| Demyelinating peripheral neuropathy | |
| Periventricular cysts | |
| Central hypoventilation | |
| Chronic hepatic encephalopathy | |
| Temporal cortical atrophy | |
| Orbital encephalocele | |
| Corticospinal tract atrophy | |
| Subcortical dementia | |
| Proximal amyotrophy | |
| Cerebellar medulloblastoma | |
| Acute demyelinating polyneuropathy | |
| Pallidal degeneration | |
| Progressive peripheral neuropathy | |
| Sensorimotor neuropathy | |
| Bilateral basal ganglia lesions | |
| Distal upper limb amyotrophy | |
| Progressive extrapyramidal movement disorder | |
| Asymmetric limb muscle stiffness | |
| Progressive extrapyramidal muscular rigidity | |
| Fluctuations in consciousness | |
| Diffuse demyelination of the cerebral white matter | |
| Corticospinal tract disease in lower limbs | |
| Slowed slurred speech | |
| Periventricular gray matter heterotopia | |
| Paroxysmal dyskinesia | |
| Motor polyneuropathy | |
| Absent smooth pursuit | |
| Interosseus muscle atrophy | |
| Peripheral hypomyelination | |
| Focal T2 hyperintense basal ganglia lesion | |
| Loss of consciousness | |
| Focal lissencephaly | |
| Congenital facial diplegia | |
| Neuronal loss in the cerebral cortex | |
| Generalized tonic-clonic seizures on awakening | |
| Progressive spastic paraparesis | |
| Episodic hypersomnia | |
| Cerebral artery atherosclerosis | |
| Diffuse white matter abnormalities | |
| Hemimegalencephaly | |
| Photosensitive tonic-clonic seizures | |
| Irregular loops and focal folding of myelin sheaths | |
| Facial paralysis | |
| Lower limb amyotrophy | |
| Periodic hyperkalemic paralysis | |
| Demyelinating motor neuropathy | |
| Progressive truncal ataxia | |
| Macrogyria | |
| Intracerebral periventricular calcifications | |
| Decreased distal sensory nerve action potential | |
| Spinocerebellar tract disease in lower limbs | |
| Clusters of axonal regeneration | |
| Recurrent subcortical infarcts | |
| Nonarteriosclerotic cerebral calcification | |
| Congenital encephalopathy | |
| Progressive gait ataxia | |
| Decreased number of small peripheral myelinated nerve fibers | |
| Recurrent external ophthalmoplegia | |
| Abnormality of pyramidal motor function | |
| Severe demyelination of the white matter | |
| Type II lissencephaly | |
| Symmetric peripheral demyelination | |
| Spinocerebellar atrophy | |
| Absent mesencephalon | |
| Cerebral dysmyelination | |
| Chronic axonal neuropathy | |
| Aprosencephaly | |
| Spinal muscular atrophy | |
| Atypical absence seizures | |
| Occipital myelomeningocele | |
| Progressive psychomotor deterioration | |
| Recurrent bacterial meningitis | |
| Paucity of anterior horn motor neurons | |
| Acute infantile spinal muscular atrophy | |
| Developmental stagnation | |
| Facial palsy secondary to cranial hyperostosis | |
| Horizontal jerk nystagmus | |
| Limb fasciculations | |
| Posterior fossa cyst | |
| Anterior sacral meningocele | |
| Chaotic rapid conjugate ocular movements | |
| Dysfunction of lateral corticospinal tracts | |
| Oromotor apraxia | |
| Bipolar affective disorder | |
| CNS demyelination | |
| Rapid neurologic deterioration | |
| Extrapyramidal dyskinesia | |
| Short stepped shuffling gait | |
| Cerebral degeneration | |
| White matter neuronal heterotopia | |
| Involuntary writhing movements | |
| Deep white matter hypodensities | |
| Generalized dystonia | |
| Progressive choreoathetosis | |
| Mixed demyelinating and axonal polyneuropathy | |
| Impaired pain sensation | |
| Frontal encephalocele | |
| Hemifacial seizures | |
| Hypoplasia of the frontal lobes | |
| Bilateral convulsive seizures | |
| Recurrent encephalopathy | |
| Hypermetric saccades | |
| Lower limb muscle weakness | |
| Diffuse swelling of cerebral white matter | |
| Limbic malformations | |
| Atrophy/Degeneration involving the spinal cord | |
| Subcortical white matter calcifications | |
| Hypoplasia of the pyramidal tract | |
| Hyperreflexia in upper limbs | |
| Upper limb postural tremor | |
| Cerebellar calcifications | |
| Amyotrophic lateral sclerosis | |
| Focal seizures | |
| Aplasia/Hypoplasia of the cerebellum | |
| Abnormality of the pons | |
| Aplasia/Hypoplasia of the brainstem | |
| Aplasia/Hypoplasia of the pyramidal tract | |
| Aplasia/Hypoplasia of the cerebrum | |
| Aplasia/Hypoplasia involving the corticospinal tracts | |
| Atrophy/Degeneration affecting the brainstem | |
| Atrophy/Degeneration affecting the central nervous system | |
| Atrophy/Degeneration affecting the cerebrum | |
| Aplasia/Hypoplasia of the corpus callosum | |
| Corpus callosum atrophy | |
| Atrophy/Degeneration involving the corticospinal tracts | |
| Atrophy/Degeneration involving motor neurons | |
| Atrophy/Degeneration involving the caudate nucleus | |
| Abnormality of the septum pellucidum | |
| Abnormality of the choroid plexus | |
| Abnormality of somatosensory evoked potentials | |
| Neoplasm of the gastrointestinal tract | |
| Neoplasm of the genitourinary tract | |
| Facial telangiectasia | |
| Congenital exfoliative erythroderma | |
| Congenital localized absence of skin | |
| Aberrant melanosome maturation | |
| Aplasia cutis congenita of scalp | |
| Hypoplastic sweat glands | |
| Hyperkeratosis with erythema | |
| Excessive wrinkled skin | |
| Prominent superficial blood vessels | |
| Postnatal-onset ichthyosiform erythroderma | |
| Early cutaneous photosensitivity | |
| Axillary apocrine gland hypoplasia | |
| Asymmetric, linear skin defects | |
| Irregular hyperpigmentation | |
| Noninflammatory macular atrophy | |
| Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines | |
| Hypertrophy of skin of soles | |
| Nonepidermolytic palmoplantar keratoderma | |
| Hyperpigmentation of eyelids | |
| Excessive skin wrinkling on dorsum of hands and fingers | |
| Tegumentary leishmaniasis susceptibility | |
| Absence of subcutaneous fat over entire body except buttocks, hips, and thighs | |
| Palmoplantar hyperhidrosis | |
| Hypoplastic-absent sebaceous glands | |
| Macular hyperpigmented dermopathy | |
| Nevus flammeus of the forehead | |
| Neonatal wrinkled skin of hands and feet | |
| Discoid lupus erythematosus | |
| Alopecia totalis | |
| Spontaneous hematomas | |
| Telangiectases of the cheeks | |
| Hyperextensible skin of face | |
| Reticulated skin pigmentation | |
| Telangiectasia of the oral mucosa | |
| Few cafe-au-lait spots | |
| Generalized edema | |
| Congenital ichthyosiform erythroderma | |
| Intermittent generalized erythematous papular rash | |
| Plaque-like facial hemangioma | |
| Diffuse palmoplantar keratoderma | |
| Hair-nail ectodermal dysplasia | |
| Multiple cutaneous leiomyomas | |
| Mottled pigmentation of the trunk and proximal extremities | |
| Generalized keratosis follicularis | |
| Generalized hyperpigmentation | |
| Hyperpigmented/hypopigmented macules | |
| Partial albinism | |
| Palmoplantar blistering | |
| Diffuse palmoplantar hyperkeratosis | |
| Hyperkeratosis over edematous areas | |
| Confetti-like hypopigmented macules | |
| Increased groin pigmentation with raindrop depigmentation | |
| Ipsilateral lack of facial sweating | |
| Midface capillary hemangioma | |
| Flexural lichenification | |
| Adermatoglyphia | |
| Progressive reticulate hyperpigmentation | |
| Prominent veins on trunk | |
| Focal hyperextensible skin | |
| Generalized anhidrosis | |
| Autoamputation of digits | |
| Hemangiomatosis | |
| Bitot spots of the conjunctiva | |
| Sparse facial hair | |
| Honeycomb palmoplantar keratoderma | |
| Midfrontal capillary hemangioma | |
| Perifollicular hyperkeratosis | |
| Palmoplantar cutis gyrata | |
| Periarticular subcutaneous nodules | |
| Axillary and groin hyperpigmentation and hypopigmentation | |
| Crusting erythematous dermatitis | |
| Congenital bullous ichthyosiform erythroderma | |
| Anhidrotic ectodermal dysplasia | |
| Abnormal dermatoglyphics | |
| Congenital nonbullous ichthyosiform erythroderma | |
| Decreased sweating due to autonomic dysfunction | |
| Hyperpigmented nevi | |
| Generalized papillary lesions | |
| Depigmentation/hyperpigmentation of skin | |
| Absence of subcutaneous fat | |
| Cavernous hemangioma of the face | |
| Diffuse skin atrophy | |
| Diffuse telangiectasia | |
| Linear arrays of macular hyperkeratoses in flexural areas | |
| Discrete 2 to 5-mm hyper- and hypopigmented macules | |
| Prematurely aged appearance | |
| Focal friction-related palmoplantar hyperkeratosis | |
| Recurrent staphylococcal infections | |
| Decreased number of sweat glands | |
| Streaks of hyperkeratosis along each finger onto the palm | |
| Follicular hyperkeratosis | |
| Generalized ichthyosis | |
| Diffuse slow skin atrophy | |
| Progressive hyperpigmentation | |
| Congenital absence of skin of limbs | |
| Punctate palmar and solar hyperkeratosis | |
| Patchy hypo- and hyperpigmentation | |
| Focal dermal aplasia/hypoplasia | |
| Mottled pigmentation of photoexposed areas | |
| Generalized hypopigmentation | |
| Edema of the dorsum of hands | |
| Hypoplastic pilosebaceous units | |
| Redundant skin on fingers | |
| Palmoplantar cutis laxa | |
| Lack of subcutaneous fatty tissue | |
| Irregular hyperpigmentation of back | |
| Increased number of skin folds | |
| Atypical neurofibromatosis | |
| Yellow subcutaneous tissue covered by thin, scaly skin | |
| Hypopigmented skin patches on arms | |
| Hidrotic ectodermal dysplasia | |
| Punctate palmoplantar hyperkeratosis | |
| Congenital posterior occipital alopecia | |
| Hypopigmented streaks | |
| Aplasia cutis congenita of midline scalp vertex | |
| Severe photosensitivity | |
| Frontal cutaneous lipoma | |
| Absent pigmentation of the ventral chest | |
| Epidermal hyperkeratosis | |
| Piebaldism | |
| Congenital palmoplantar keratosis | |
| Linear hyperpigmentation | |
| Palmoplantar keratosis with erythema and scale | |
| Desquamation of skin soon after birth | |
| Hypohidrosis or hyperhidrosis | |
| Abnormal subcutaneous fat tissue distribution | |
| Congenital symmetrical palmoplantar keratosis | |
| Confetti hypopigmentation pattern of lower leg skin | |
| Plantar hyperkeratosis | |
| Localized epidermolytic hyperkeratosis | |
| Unusual dermatoglyphics | |
| Telangiectases in sun-exposed and nonexposed skin | |
| Multiple cafe-au-lait spots | |
| Index finger dermatoglyphic radial loop | |
| Generalized seborrheic dermatitis | |
| Hyperkeratosis lenticularis perstans | |
| Hyperpigmented streaks | |
| Late onset atopic dermatitis | |
| Generalized bronze hyperpigmentation | |
| Palmar neurofibromas | |
| Mediosternal, longitudinal streak of hypopigmentation | |
| Telangiectasia macularis eruptiva perstans | |
| Skin fragility with non-scarring blistering | |
| Telangiectases producing 'marbled' skin | |
| Numerous pigmented freckles | |
| Reticular hyperpigmentation | |
| Aplasia cutis congenita on trunk or limbs | |
| Aplasia cutis congenita over posterior parietal area | |
| Aplasia/Hypoplastia of the eccrine sweat glands | |
| Redundant skin in infancy | |
| Painful subcutaneous lipomas | |
| Congenital palmoplantar keratodermia | |
| Bilateral single transverse palmar creases | |
| Generalized reticulate brown pigmentation | |
| Midline facial capillary hemangioma | |
| Complex palmar dermatoglyphic pattern | |
| Freckles in sun-exposed areas | |
| Excessive wrinkling of palmar skin | |
| Multiple cutaneous malignancies | |
| Hypohidrotic ectodermal dysplasia | |
| Abnormal palmar dermal ridges | |
| Hypoproteinemic edema | |
| Blotching pigmentation of the skin | |
| Spinous keratoses of palms and soles | |
| Nevus flammeus nuchae | |
| Fine, reticulate skin pigmentation | |
| Subcutaneous calcification | |
| Cutaneous leiomyoma | |
| Telangiectasia of extensor surfaces | |
| Pigmentation anomalies of sun-exposed skin | |
| Mandibular osteomyelitis | |
| Mandibular condyle aplasia | |
| Mandibular condyle hypoplasia | |
| Bilateral microphthalmos | |
| Nonarteritic anterior ischemic optic neuropathy | |
| Dyschromatopsia | |
| Congenital stationary night blindness | |
| Peripheral traction retinal detachment | |
| Absent lower eyelashes | |
| Congenital extraocular muscle anomaly | |
| Punctate cataract | |
| Congenital hypertrophy of retinal pigment epithelium | |
| Progressive ophthalmoplegia | |
| Ectropion of lower eyelids | |
| Retinal striation | |
| Eversion of lateral third of lower eyelids | |
| Lacrimal gland aplasia | |
| Diffuse nuclear cataract | |
| Large hyperpigmented retinal spots | |
| Decreased retinal pigmentation with dispersion | |
| Chorioretinal hypopigmentation or hyperpigmentation | |
| Decreased central vision | |
| Curly eyelashes | |
| Cystic retinal degeneration | |
| Impaired pursuit initiation and maintenance | |
| Abnormal vestibulo-ocular reflex | |
| Progressive night blindness | |
| Hypoplasia of the iris | |
| Vitelliform maculopathy | |
| Lacrimal duct stenosis | |
| Depigmented fundus | |
| Peripheral retinal avascularization | |
| Abnormal pupillary function | |
| Unilateral ptosis | |
| Absent rod-and cone-mediated responses on ERG | |
| Map-dot-fingerprint corneal dystrophy | |
| Short curly eyelashes | |
| Nonnuclear polymorphic congenital cataract | |
| Abnormal pupillary light reflex | |
| Hypoplasia of the lower eyelids | |
| Retinal pigment epithelial atrophy | |
| Anterior segment dysgenesis | |
| Pigmentary retinal deposits | |
| Abnormal retinal pigmentation | |
| Paroxysmal involuntary eye movements | |
| Corneal degeneration | |
| Congenital primary aphakia | |
| Absent inner eyelashes | |
| Band-shaped corneal dystrophy | |
| Peripheral vitreous opacities | |
| Choroidal dystrophy | |
| Juvenile zonular cataracts | |
| Weak extraocular muscles | |
| Intraocular melanoma | |
| Chronic irritative conjunctivitis | |
| Flat cornea | |
| Saccular conjunctival aneurysms | |
| Loss of retinal pigment epithelium | |
| Opacification of the corneal epithelium | |
| Congenital miosis | |
| Iris hypopigmentation | |
| Chorioretinal dysplasia | |
| Lacrimal gland hypoplasia | |
| Laterally curved eyebrow | |
| Enlarged lacrimal glands | |
| Pericentral retinal dystrophy | |
| Bony spicule pigmentary retinopathy | |
| Uncontrolled eye movements | |
| Mildly reduced visual acuity | |
| Long eyelashes in irregular rows | |
| Iridoretinal coloboma | |
| Monocular horizontal nystagmus | |
| Irido-fundal coloboma | |
| Hypoplasia of the fovea | |
| Macular dystrophy | |
| Juvenile epithelial corneal dystrophy | |
| Slitlike anterior chamber angles in children | |
| Hypoplasia of choroid | |
| Congenital visual impairment | |
| Opacification of the corneal stroma | |
| Crystalline corneal dystrophy | |
| Pericentral scotoma | |
| Retinal telangiectasia | |
| Deep anterior chamber | |
| Optic disc hypoplasia | |
| Central retinal vessel vascular tortuosity | |
| Peripheral retinal degeneration | |
| Retinal hypoplasia | |
| Impaired smooth pursuit | |
| Vitreoretinal abnormalities | |
| Hypoplasia of the ciliary body | |
| Sparse lower eyelashes | |
| Chorioretinal scars | |
| Neovascularization of peripheral and posterior retina | |
| Anterior segment of eye aplasia | |
| Cortical pulverulent cataract | |
| Peripheral retinal cone degeneration | |
| Butterfly retinal pigment epithelial dystrophy | |
| Lacunar retinal depigmentation | |
| Posterior subcapsular cataract | |
| Patchy atrophy of the retinal pigment epithelium | |
| Microsaccadic pursuit | |
| Macular retinal pigment epithelial mottling | |
| Anterior cortical cataract | |
| Retinal vascular malformation | |
| Foveal dystrophy | |
| Conjunctival whitish salt-like deposits | |
| Increased axial globe length | |
| Fishnet retinal pigmentation | |
| Granular corneal dystrophy | |
| Monochromacy | |
| Optic nerve compression | |
| Bilateral retinal coloboma | |
| Punctate corneal dystrophy | |
| Progressive bifocal chorioretinal atrophy | |
| Horizontal pendular nystagmus | |
| Herpetiform corneal ulceration | |
| Nongranulomatous uveitis | |
| Salt and pepper retinopathy | |
| Abnormal distribution of retinal arterioles and venules | |
| Horizontal supranuclear gaze palsy | |
| Central heterochromia | |
| Presenile cataracts | |
| Atretic lacrimal punctum | |
| Central retinal exudate | |
| Total ophthalmoplegia | |
| Cataracts develop in second or third decade | |
| Nodular corneal dystrophy | |
| Diffuse retinal cone degeneration | |
| Adult-onset night blindness | |
| Nonprogressive restrictive external ophthalmoplegia | |
| Pigmentation of the sclera | |
| Anterior chamber synechiae | |
| Progressive cataract | |
| S-shaped palpebral fissures | |
| Mosaic corneal dystrophy | |
| Progressive ptosis | |
| Long upper eyelashes | |
| Amyloid deposition in the vitreous humor | |
| Attenuation of retinal blood vessels | |
| Retinal vascular proliferation | |
| Temporal displacement of maculae | |
| Pericentral pigmentary retinopathy | |
| Glaucomatous visual field defect | |
| Punctate opacification of the cornea | |
| Chorioretinal lacunae | |
| Congenital horizontal nystagmus | |
| Retinal calcification | |
| Retinal lesions | |
| Focal retinal infarction | |
| Restrictive partial external ophthalmoplegia | |
| Age-related macular degeneration | |
| Peripheral retinopathy | |
| Choroidal hemangiomata | |
| Abnormally prominent line of Schwalbe | |
| Almond-shaped palpebral fissure | |
| Congenital blindness | |
| Juvenile cortical cataract | |
| Allergic conjunctivitis | |
| Marginal corneal dystrophy | |
| Central corneal dystrophy | |
| Slowed horizontal saccades | |
| Absent extraocular muscles | |
| Iridescent posterior subcapsular cataract | |
| Hypoplasia of the lacrimal puncta | |
| Progressive retinal degeneration | |
| Hypopigmentation of the fundus | |
| Exudative retinopathy | |
| Retinal nonattachment | |
| Hypoplastic lacrimal duct | |
| Retinal malformation | |
| Vitreous hemorrhage | |
| Pigmented paravenous chorioretinal atrophy | |
| Abnormal iris vasculature | |
| Increased intraocular pressure | |
| Nonprogressive congenital retinal dystrophy | |
| Congenital bilateral ptosis | |
| Reticular retinal dystrophy | |
| Polymorphous posterior corneal dystrophy | |
| Small anterior lens surface opacities | |
| Tractional retinal detachment | |
| Congenital chorioretinal dystrophy | |
| Hypermyelinated retinal fibers | |
| Foveal hyperplasia | |
| Slow decrease in visual acuity | |
| Lacrimal duct aplasia | |
| Abnormal flash visual evoked potentials | |
| Peripheral retinal detachment | |
| Prominent epicanthal folds | |
| Bilateral congenital mydriasis | |
| Broad lateral eyebrow | |
| Juvenile posterior subcapsular lenticular opacities | |
| Restrictive external ophthalmoplegia | |
| Honeycomb retinal degeneration | |
| Blue cone monochromacy | |
| Limited extraocular movements | |
| Internal ophthalmoplegia | |
| Congenital stapes ankylosis | |
| Intermittent microsaccadic pursuits | |
| Choroidal degeneration | |
| Unilateral narrow palpebral fissure | |
| Pericentral retinitis pigmentosa | |
| Dense posterior cortical cataract | |
| Progressive macular scarring | |
| Peripapillary chorioretinal atrophy | |
| Bilateral choroid coloboma | |
| Corneal opacity | |
| Optic atrophy from cranial nerve compression | |
| Rarefaction of retinal pigmentation | |
| Speckled corneal dystrophy | |
| Macroreticular retinal dystrophy | |
| Degenerative vitreoretinopathy | |
| Absence of visual evoked potentials | |
| Persistent hyperplastic primary vitreous | |
| Congenital ptosis | |
| Lamellar cataract | |
| Retinal dysplasia | |
| Hypometric horizontal saccades | |
| Cerulean cataract | |
| Gaze-evoked horizontal nystagmus | |
| Absent retinal pigment epithelium | |
| Concentric narrowing of visual fields | |
| Central tapetoretinal dystrophy | |
| Reduced amplitude of b-wave (ERG) | |
| Retinal arteriolar occlusion | |
| Increased retinal vascularity | |
| Progressive visual field defects | |
| Macular hypopigmentation | |
| Intraretinal exudate | |
| Hypoplastic iris stroma | |
| Lattice retinal degeneration | |
| Malformed lacrimal ducts | |
| Peripheral visual field loss | |
| Decreased corneal reflex | |
| Foveal hyperpigmentation | |
| Abnormality of macular pigmentation | |
| Jerky ocular pursuit movements | |
| Congenital corneal dystrophy | |
| Primary congenital glaucoma | |
| Progressive central visual loss | |
| Three rows of eyelashes | |
| Peripheral opacification of the cornea | |
| Congenital myopia | |
| Central fundal arteriolar microaneurysms | |
| Depigmented lesions of the retinal pigment epithelium | |
| Superior lens subluxation | |
| Progressive cone degeneration | |
| Congenital nuclear cataract | |
| Horizontal opticokinetic nystagmus | |
| Cystoid macular degeneration | |
| Retinal arteritis | |
| Posterior Y-sutural cataract | |
| Congenital exotropia | |
| Abnormal iris pigmentation | |
| Retinitis pigmentosa inversa | |
| Retinal pigmentary dystrophy | |
| Absent anterior eye chamber | |
| Aplastic/hypoplastic lacrimal glands | |
| Subepithelial corneal opacities | |
| Late onset congenital glaucoma | |
| Retinal arteriolar constriction | |
| Enlarged flash visual evoked potentials | |
| Abnormality of the retinal vasculature | |
| Abnormality of the vasculature of the eye | |
| Abnormality of the line of Schwalbe | |
| Abnormality of the extraocular muscles | |
| Abnormality of the palpebral fissures | |
| Abnormality of the retinal pigment epithelium | |
| Abnormal retinal folds | |
| Aplasia/Hypoplasia of the iris | |
| Abnormality of the vasculature of the conjunctiva | |
| Aplasia/Hypoplasia affecting the uvea | |
| Aplasia/Hypoplasia affecting the eye | |
| Aplasia/Hypoplasia affecting the fundus | |
| Aplasia/Hypoplasia of the optic nerve | |
| Aplasia/Hypoplasia of the macula | |
| Aplasia/Hypoplasia of the fovea | |
| Aplasia/Hypoplasia affecting the retina | |
| Aplasia/Hypoplasia affecting the anterior segment of the eye | |
| Aplasia/Hypoplasia of the lens | |
| Ichthyosis | |
| Aplasia/Hypoplasia of the skin | |
| Abnormal blistering of the skin | |
| Abnormally lax or hyperextensible skin | |
| Neoplasm of the skin | |
| Sparse hair | |
| Maternal hypertension | |
| Maternal virilization in pregnancy | |
| Low maternal serum estriol | |
| Metatarsal periosteal thickening | |
| Progressive pes cavus | |
| Osteoporotic tarsals | |
| Thin metatarsal cortices | |
| Absent fifth metatarsal | |
| Hallux varus | |
| Valgus foot deformity | |
| Medial deviation of the foot | |
| 2nd-5th toe middle phalangeal hypoplasia | |
| Nonossified fifth metatarsal | |
| Abnormality of the fifth metatarsal bone | |
| Ankylosis of feet small joints | |
| Short 4th toe | |
| Widely spaced toes | |
| Osteolysis of talus | |
| Medially deviated second toe | |
| Partial fusion of tarsals | |
| Expanded metatarsals with widened medullary cavities | |
| Delayed tarsal ossification | |
| Plantar crease between first and second toes | |
| Advanced tarsal ossification | |
| Equinovarus deformity | |
| Broad distal hallux | |
| Plantar flexion contractures | |
| Multiple plantar creases | |
| Metatarsal diaphyseal endosteal sclerosis | |
| Clinodactyly of the 3rd toe | |
| Flexion limitation of toes | |
| Shortening of the talar neck | |
| Deformed tarsal bones | |
| Calcaneonavicular fusion | |
| Talipes calcaneovarus | |
| Second metatarsal posteriorly placed | |
| Bipartite calcaneus | |
| Tarsal stippling | |
| Medial rotation of the medial malleolus | |
| Distal tapering of metatarsals | |
| Irregular tarsal ossification | |
| Equinus calcaneus | |
| Dislocation of toes | |
| Delayed calcaneal ossification | |
| Flattening of the talar dome | |
| Impaired epinephrine-induced platelet aggregation | |
| Elevated serum transaminases during infections | |
| Prolonged prothrombin time | |
| Periodic hypokalemic paresis | |
| Mucopolysacchariduria | |
| Hyperapobetalipoproteinemia | |
| 3-hydroxydicarboxylic aciduria | |
| Absent leukocyte alkaline phosphatase | |
| Asymptomatic hyperammonemia | |
| Decreased circulating cortisol level | |
| Reduced circulating T-helper cells | |
| Decreased beta-galactosidase activity | |
| Very long chain fatty acid accumulation | |
| Reduced factor VII activity | |
| Neonatal unconjugated hyperbilirubinemia | |
| Abnormal cartilage matrix | |
| Decreased electrooculogram (EOG) | |
| Mildly elevated creatine phosphokinase | |
| Abetalipoproteinemia | |
| Adrenocortical hypoplasia | |
| Precocious puberty in males | |
| Adrenocortical cytomegaly | |
| Absence of secondary sex characteristics | |
| Thyroid dysgenesis | |
| Insulin insensitivity | |
| Thyroid agenesis | |
| Primary gonadal insufficiency | |
| Multiple pancreatic beta-cell adenomas | |
| Absence of pubertal development | |
| Congenital hypoparathyroidism | |
| Primary hyperparathyroidism | |
| Prolactin deficiency | |
| Precocious puberty with Sertoli cell tumor | |
| Insulin-dependent but ketosis-resistant diabetes | |
| Primary adrenal insufficiency | |
| Parathyroid hyperplasia | |
| Premature ovarian failure | |
| Parathyroid agenesis | |
| Gonadotropin deficiency | |
| Decreased serum estradiol | |
| Adrenal gland dysgenesis | |
| Hypocortisolemia | |
| Adrenal hyperplasia | |
| Female infertility | |
| Compensated hypothyroidism | |
| Thyroid follicular hyperplasia | |
| Androgen insufficiency | |
| Pituitary resistance to thyroid hormone | |
| Thyroid lymphangiectasia | |
| Decreased testosterone in males | |
| Macronodular adrenal hyperplasia | |
| Elevated follicle stimulating hormone | |
| Decreased serum progesterone | |
| Isosexual precocious puberty | |
| Hypothalamic hypothyroidism | |
| Adrenal medullary hypoplasia | |
| Secondary growth hormone deficiency | |
| Pseudohypoaldosteronism | |
| Congenital adrenal hypoplasia | |
| Pituitary hypothyroidism | |
| Euthyroid hyperthyroxinemia | |
| Thyroid hyperplasia | |
| Infantile hypercalcemia | |
| Congenital goiter | |
| Transient neonatal diabetes mellitus | |
| Adrenocortical adenoma | |
| Congenital adrenal hyperplasia | |
| Adrenocorticotropin (ACTH) receptor (ACTHR) defect | |
| Pancreatic islet cell adenoma | |
| Thyroid defect in oxidation and organification of iodide | |
| Neutrophil inclusion bodies | |
| Mitochondrial lysine transport defect | |
| Increased red cell hemolysis by shear stress | |
| Abnormal cartilage collagen | |
| Renal tubular lysine transport defect | |
| Transient aminoaciduria | |
| Abnormal cone-mediated electroretinogram | |
| Abnormality of zinc homeostasis | |
| Cerebellar cortical atrophy | |
| Transient hyperlipidemia | |
| Acute hyperammonemia | |
| Unconjugated hyperbilirubinemia | |
| Fasting hyperinsulinemia | |
| Transient hypophosphatemia | |
| Nonketotic hyperglycinemia | |
| Partial complement factor H deficiency | |
| Pituitary corticotropic cell adenoma | |
| Long-chain dicarboxylic aciduria | |
| Transient hyperphenylalaninemia | |
| Dermatan sulfate excretion in urine | |
| Olivary degeneration | |
| Exercise-induced myoglobinuria | |
| Abnormal iron deposition in mitochondria | |
| Medium chain dicarboxylic aciduria | |
| Spinal cord posterior columns myelin loss | |
| Decreased activity of mitochondrial complex II | |
| Decreased plasma free carnitine | |
| Abnormal mitochondria in muscle tissue | |
| Elevated leukocyte alkaline phosphatase | |
| Impaired collagen-induced platelet aggregation | |
| Reduced factor X activity | |
| Abnormal mitochondrial morphology | |
| Abnormal rod and cone electroretinograms | |
| Vitamin B6 deficiency | |
| Microscopic nephrocalcinosis | |
| Reduced von Willebrand factor activity | |
| Elevated creatine kinase after exercise | |
| Renal aminoaciduria | |
| Complex organic aciduria | |
| Partial functional complement factor D deficiency | |
| Diaminoaciduria | |
| Distal renal tubular acidosis | |
| Elevated plasma branched chain amino acids | |
| Hypoplasia of the iris dilator muscle | |
| Increased red cell sickling tendency | |
| Decreased activity of mitochondrial complex IV | |
| Immunoglobulin IgG2 deficiency | |
| Impaired platelet adhesion | |
| Neutral hyperaminoaciduria | |
| Factor X activation deficiency | |
| Combined hyperlipidemia | |
| Reduced factor XIII activity | |
| Hyperprolinemia | |
| Neonatal hypoproteinemia | |
| Corticospinal tract pallor | |
| Aplasia/Hypoplasia of the hallux | |
| Aplasia/Hypoplasia of the tarsal bones | |
| Abnormality of the calcaneus | |
| Abnormality of the talus | |
| Contractures involving the joints of the feet | |
| Tarsal synostosis | |
| Abnormal tarsal ossification | |
| Abnormal metatarsal ossification | |
| Abnormality of vitamin A metabolism | |
| Puberty and gonadal disorders | |
| Nasal, dysarthic speech | |
| Slow-growing nails | |
| Aplasia/Hypoplasia of the nails | |
| Abnormality of the toenails | |
| Recurrent loss of toenails and fingernails | |
| Dystrophic fingernails | |
| Subungual hyperkeratosis | |
| Congenital curved nail of fourth toe | |
| Congenital onychodystrophy | |
| Chronic monilial nail infection | |
| Hypoplastic fifth fingernail | |
| Circumungual hyperkeratosis | |
| Onycholysis of distal fingernails | |
| Onychogryposis of toenails | |
| Ridged fingernail | |
| Nail dystrophy | |
| Hyperconvex thumb nails | |
| Subungual hyperkeratotic fragments | |
| Lumbar kyphosis in infancy | |
| Six lumbar vertebrae | |
| Vertebral hypoplasia | |
| Squared-off platyspondyly | |
| Intervertebral disc degeneration | |
| Punctate vertebral calcifications | |
| Tall lumbar vertebral bodies | |
| Vertebral wedging | |
| Spinal dysplasia | |
| Hypoplastic 5th lumbar vertebrae | |
| Cuboid-shaped thoracolumbar vertebral bodies | |
| Vertebral clefting | |
| Anterior beaking of lumbar vertebrae | |
| Anterior wedging of L1 | |
| Reversed usual vertebral column curves | |
| Hypoplastic cervical vertebrae | |
| Absent in utero ossification of vertebral bodies | |
| Absent/hypoplastic coccyx | |
| Bifid thoracic vertebrae | |
| Vertebral arch anomaly | |
| Lumbar hemivertebrae | |
| C1-C2 vertebral abnormality | |
| Herniation of intervertebral nuclei | |
| Vertebral hyperostosis | |
| Spinal deformities | |
| Posterior wedging of vertebral bodies | |
| Cervical spinal canal stenosis | |
| Hypoplastic coccygeal vertebrae | |
| Progressive cervical vertebral spine fusion | |
| Narrow vertebral interpedicular distance | |
| Posterior vertebral hypoplasia | |
| Wafer-thin platyspondyly | |
| Congenital kyphoscoliosis | |
| Lumbar kyphosis | |
| Dysplastic sacrum | |
| C2-C3 subluxation | |
| Caudal interpedicular narrowing | |
| Progressive congenital scoliosis | |
| Cervical vertebral agenesis | |
| Hypoplastic spinal processes | |
| Cervical vertebral facet hypoplasia | |
| Cervical instability | |
| Central vertebral hypoplasia | |
| Absent spinous processes of lower thoracic and lumbar vertebrae | |
| Absent vertebrae | |
| Thoracic hemivertebrae | |
| Abnormal sacral segmentation | |
| Cervical vertebral dysplasia | |
| Lower thoracic interpediculate narrowness | |
| Prominent protruding coccyx | |
| Narrow anterio-posterior vertebral body diameter | |
| Hypoplastic sacral vertebrae | |
| Irregular sclerotic endplates | |
| Poorly ossified cervical vertebrae | |
| Scheuermann-like vertebral changes | |
| Hypoplastic vertebral bodies | |
| Cervical spondylosis | |
| Asymmetry of spinal facet joints | |
| Cervical vertebral bodies with decreased anteroposterior diameter | |
| Thoracolumbar interpediculate narrowness | |
| Lumbar interpedicular narrowing | |
| Anterior rounding of vertebral bodies | |
| Spondylolisthesis at L5-S1 | |
| Sacral segmentation defects | |
| Premature anterior fontanel closure | |
| Inferior lens subluxation | |
| Multiple rows of eyelashes | |
| Congenital craniofacial dysostosis | |
| No permanent dentition | |
| High-grade hypermetropia | |
| Median cleft lip and palate | |
| Moderate sensorineural hearing impairment | |
| Static ophthalmoparesis | |
| Aged leonine appearance | |
| Central posterior corneal opacity | |
| Bilateral conductive hearing impairment | |
| Aplasia/Hypoplasia of the vertebrae | |
| Abnormality of the vertebral spinous processes | |
| Aplasia/Hypoplasia of the sacrum | |
| Aplasia/Hypoplasia involving the vertebral column | |
| Abnormality of the coccyx | |
| Posterior helix pit | |
| Congenital sensorineural hearing impairment | |
| Long hairs growing from helix of pinna | |
| Absence of acoustic reflex | |
| Cleft at the superior portion of the pinna | |
| Superiorly displaced ears | |
| Low-frequency hearing loss | |
| Abnormally folded helix | |
| Microtia | |
| Cochlear malformation | |
| Absent vestibular function | |
| Hypoplastic superior helix | |
| Vestibular areflexia | |
| Microtia, second degree | |
| External ear malformation | |
| Low-frequency sensorineural hearing impairment | |
| Underfolded helix | |
| Underfolded superior helices | |
| Hypoplasia of the cochlea | |
| Mild neurosensory hearing impairment | |
| Slit-like opening of the exterior auditory meatus | |
| Hypoplastic helices | |
| Congenital conductive hearing impairment | |
| Prominent antitragus | |
| Postlingual sensorineural hearing impairment | |
| Mild conductive hearing impairment | |
| Unilateral external ear deformity | |
| Supraauricular pit | |
| Progressive conductive hearing impairment | |
| Hypertrophic auricular cartilage | |
| Morphological abnormality of the middle ear | |
| Infantile sensorineural hearing impairment | |
| Adult onset sensorineural hearing impairment | |
| Bilateral sensorineural hearing impairment | |
| Severe sensorineural hearing impairment | |
| Abnormality of the stapes | |
| Pulsatile tinnitus | |
| Ureteral dysgenesis | |
| Absent gonadal tissue | |
| Hypertrophy of the urinary bladder | |
| Lobular glomerulopathy | |
| Gonadal hypoplasia | |
| Congenital macroorchidism | |
| Nephroblastomatosis | |
| Pubertal developmental failure in females | |
| Anteriorly displaced urethral meatus | |
| Uric acid urolithiasis independent of gout | |
| Autonomic erectile dysfunction | |
| Crescentic glomerulonephritis | |
| Aplasia/Hypoplasia of the fallopian tube | |
| Incomplete male pseudohermaphroditism | |
| Multiple small medullary renal cysts | |
| Renotubular dysgenesis | |
| Urethral stenosis | |
| Renal sarcoma | |
| Urethral sphincter sclerosis | |
| Clitoral hypertrophy | |
| Impaired histidine renal tubular absorption | |
| Gonadal dysgenesis, male | |
| Abnormal spermatogenesis | |
| Partial vaginal septum | |
| Calcium oxalate nephrolithiasis | |
| Enlarged polycystic ovaries | |
| Congenital megaureter | |
| Congenital nephrotic syndrome | |
| Renal hypoplasia/aplasia | |
| Acute tubular necrosis | |
| Enlarged labia minora | |
| Aplasia/hypoplasia of the uterus | |
| Hypoplasia of the prostate | |
| Bilateral cryptorchidism | |
| Solitary bladder diverticulum | |
| Hypertrophic labia minora | |
| Transient nephrotic syndrome | |
| Renal hamartoma | |
| Hypoplasia of the fallopian tube | |
| Absent internal genitalia | |
| Gonadal calcification | |
| Ureteral triplication | |
| Distal urethral duplication | |
| Absent scrotum | |
| Partial development of the penile shaft | |
| Benign prostatic hyperplasia | |
| Ureterovesical stenosis | |
| Testicular dysgenesis | |
| Urethrovaginal fistula | |
| Unilateral renal atrophy | |
| Unilateral renal dysplasia | |
| Primary testicular failure | |
| Urethral diverticulum | |
| Gonadal dysgenesis with female appearance, male | |
| Hypoplasia of the ovary | |
| Hypoplasia of the vagina | |
| Absence of labia majora | |
| Female external genitalia in individual with 46,XY karyotype | |
| Renal hypophosphatemia | |
| Dysplastic testes | |
| Decreased testicular size | |
| Hypoplasia of penis | |
| Partially duplicated kidney | |
| Labial pseudohypertrophy | |
| Longitudinal vaginal septum | |
| Prominent prostate median bar | |
| Coronal hypospadias | |
| Abnormality of the aryepiglottic fold | |
| Cartilaginous ossification of larynx | |
| Laryngeal hypoplasia | |
| Laryngeal atresia | |
| Laryngeal cleft | |
| Laryngeal cartilage malformation | |
| Aplasia of the epiglottis | |
| Laryngeal calcification | |
| Laryngotracheomalacia | |
| Bowing of the vocal cords | |
| Unilateral vocal cord paralysis | |
| Violent behavior | |
| Repetitive compulsive behavior | |
| No social interaction | |
| Auditory hallucinations | |
| Self-mutilation of tongue and lips due to involuntary movements | |
| Inappropriate sexual behavior | |
| Dull facial expression | |
| Obsessive-compulsive trait | |
| Aplasia/Hypoplasia of the ear | |
| Aplasia/Hypoplasia of the external ear | |
| Aplasia/Hypoplasia of the middle ear | |
| Aplasia/Hypoplasia of the inner ear | |
| Abnormality of the prostate | |
| Abnormality of the renal artery | |
| Abnormality of the vocal cords | |
| Congenital bilateral hip dislocation | |
| Wide proximal femoral metaphysis | |
| Wide capital femoral epiphyses | |
| Delayed ossification of pubic rami | |
| Iliac crest serration | |
| Delayed pubic bone ossification | |
| Cone-shaped capital femoral epiphysis | |
| Widened proximal femoral metaphyses | |
| Dysplastic iliac wings | |
| Externally rotated hips | |
| Early ossification of capital femoral epiphyses | |
| Widened, small sacrosciatic notches | |
| Limited hip movement | |
| Hypoplasia of the lesser trochanter | |
| Hypoplasia of the femoral head | |
| Narrow sacroiliac notch | |
| Broad femoral head | |
| Acetabular dysplasia | |
| High iliac wings | |
| Flattened femoral head | |
| Narrow sacroiliac notches in infancy | |
| Aplastic pubic bones | |
| Large iliac wings | |
| Narrow femoral neck | |
| Absent ossification of capital femoral epiphysis | |
| Hypoplastic inferior ilia | |
| Hypoplastic ischiopubic rami | |
| Hypoplastic inferior pubic rami | |
| Hypoplastic iliac body | |
| Dislocation of the femoral head | |
| Delayed proximal femoral epiphyseal ossification | |
| Delayed femoral head ossification | |
| Hypoplastic pubic rami | |
| Irregular acetabular roof | |
| Multicentric femoral head ossification | |
| Stippled calcification proximal humeral epiphyses | |
| Hypoplastic pelvis | |
| Hip osteoarthritis | |
| Mesomelic short stature | |
| Severe intrauterine growth retardation | |
| Moderately short stature | |
| Severe postnatal growth retardation | |
| Moderate postnatal growth retardation | |
| Neonatal short-trunk short stature | |
| Failure to thrive secondary to recurrent infections | |
| Feeding difficulties in infancy | |
| Disproportionate short-limb short stature | |
| Mild intrauterine growth retardation | |
| Adipose tissue loss | |
| Severe short-limb dwarfism | |
| Postnatal growth retardation | |
| Rhizomelia | |
| Lethal short-limbed short stature | |
| Childhood-onset truncal obesity | |
| Neonatal short-limb short stature | |
| Childhood-onset short-trunk short stature | |
| Asymmetric short stature | |
| Generalized neonatal hypotonia | |
| Muscular hypotonia of the trunk | |
| Generalized lymphadenopathy | |
| Acute rhabdomyolysis | |
| Distal lower limb amyotrophy | |
| Loss of ability to walk in early childhood | |
| Pelvic girdle amyotrophy | |
| Infantile muscular hypotonia | |
| Proximal upper limb amyotrophy | |
| Shoulder muscle hypoplasia | |
| Pectoralis major hypoplasia | |
| Intrinsic hand muscle atrophy | |
| Progressive distal muscular atrophy | |
| Proximal lower limb amyotrophy | |
| Distal upper limb muscle weakness | |
| Calf muscle hypoplasia | |
| Tibialis muscle weakness | |
| Nonprogressive muscular atrophy | |
| Exercise-induced muscle stiffness | |
| Muscle hypertrophy of the lower extremities | |
| Leg muscle stiffness | |
| Scapulohumeral muscular dystrophy | |
| Decreased activity of mitochondrial respiratory chain | |
| Necrotizing myopathy | |
| Calf muscle hypertrophy | |
| Neck muscle hypoplasia | |
| Increased intramuscular fat | |
| Agenesis of the diaphragm | |
| Pelvic girdle muscle atrophy | |
| Exercise-induced leg cramps | |
| Increased intraabdominal fat | |
| Proximal muscle weakness in lower limbs | |
| Proximal muscle weakness in upper limbs | |
| Pectoralis hypoplasia | |
| Loss of truncal subcutaneous adipose tissue | |
| Increased subcutaneous truncal adipose tissue | |
| Hypoplasia of the musculature | |
| Weakness of the intrinsic hand muscles | |
| Hypoplastic biceps | |
| Hypoplasia of serratus anterior muscle | |
| Congenital absence of gluteal muscles | |
| Upper limb muscle hypoplasia | |
| Loss of gluteal subcutaneous adipose tissue | |
| Progressive loss of facial adipose tissue | |
| Exercise-induced muscle fatigue | |
| Abdominal wall muscle weakness | |
| Increased connective tissue | |
| Hypoplasia of latissimus dorsi muscle | |
| Foot dorsiflexor weakness | |
| Generalized weakness of limb muscles | |
| Amyotrophy of ankle musculature | |
| Segmental spinal muscular atrophy | |
| Marked muscular hypertrophy | |
| Hypoplasia of deltoid muscle | |
| Exercise-induced rhabdomyolysis | |
| Difficulty running | |
| Peroneal muscle atrophy | |
| Quadriceps muscle atrophy | |
| Increased muscle glycogen content | |
| Distal lower limb muscle weakness | |
| Scapuloperoneal myopathy | |
| Generalized limb muscle atrophy | |
| Loss of subcutaneous adipose tissue from upper limbs | |
| Increased muscle lipid content | |
| Congenital generalized lipodystrophy | |
| Scapular muscle atrophy | |
| Infantile axial hypotonia | |
| Progressive distal muscle weakness | |
| Generalized lipodystrophy | |
| Progressive spinal muscular atrophy | |
| Lethal infantile mitochondrial myopathy | |
| Inflammatory myopathy | |
| Decreased Achilles reflex | |
| Progressive proximal muscle weakness | |
| Weakness of long finger extensor muscles | |
| Midline notch of upper alveolar ridge | |
| Alveolar ridge overgrowth | |
| Posteriorly placed tongue | |
| Speech articulation difficulties | |
| Facial diplegic appearance | |
| Progressive alveolar ridge hypertropy | |
| Cleft lower alveolar ridge | |
| Chronic oral candidiasis | |
| Median cleft palate | |
| Thick anterior alveolar ridges | |
| Submucous cleft lip | |
| Anterior open-bite malocclusion | |
| Aplasia/Hypoplasia involving the pelvis | |
| Aplasia/Hypoplasia of the pubic bone | |
| Abnormal ossification of the pubic bone | |
| Abnormal pelvis bone ossification | |
| Abnormal ossification involving the femoral head and neck | |
| Aplasia/Hypoplasia involving the femoral head and neck | |
| Denervation of the diaphragm | |
| Diaphragmatic eventration | |
| Absent left hemidiaphragm | |
| Diaphragmatic weakness | |
| Aplasia/hypoplasia involving the skeleton | |
| Aplasia/Hypoplasia involving bones of the skull | |
| Aplasia/Hypoplasia of the maxilla | |
| Aplasia/Hypoplasia of the mandible | |
| Aplasia/Hypoplasia of the frontal sinuses | |
| Aplasia/Hypoplasia involving the sinuses | |
| Abnormal axial skeleton morphology | |
| Aplasia/hypoplasia affecting bones of the axial skeleton | |
| Mixed hypo- and hyperpigmentation of the skin | |
| Abnormality of adipose tissue | |
| Lipodystrophy | |
| Increased adipose tissue | |
| Abnormality of the musculature of the limbs | |
| Aplasia/Hypoplasia involving the musculature of the extremities | |
| Upper limb amyotrophy | |
| Hand muscle atrophy | |
| Abnormality of the musculature of the thorax | |
| Abnormal tarsal bone mineral density | |
| Osteolysis involving bones of the feet | |
| Duplication involving bones of the feet | |
| Synostosis involving bones of the lower limbs | |
| Osteolysis involving bones of the lower limbs | |
| Synostosis involving bones of the feet | |
| Depletion of mitochondrial DNA in muscle tissue | |
| Duplication of bones involving the upper extremities | |
| Supernumerary bones of the axial skeleton | |
| Abnormality of cerebral artery | |
| Enlarged epiphysis of the distal phalanx of the 5th finger | |
| Small epiphysis of the distal phalanx of the 5th finger | |
| Triangular epiphysis of the distal phalanx of the 5th finger | |
| Abnormality of the proximal phalanx of the 5th finger | |
| Abnormality of the epiphyses of the 5th finger | |
| Abnormality of the epiphysis of the proximal phalanx of the 5th finger | |
| Triangular epiphysis of the proximal phalanx of the 5th finger | |
| Cone-shaped epiphysis of the proximal phalanx of the 5th finger | |
| Ivory epiphysis of the proximal phalanx of the 5th finger | |
| Enlarged epiphysis of the proximal phalanx of the 5th finger | |
| Small epiphysis of the proximal phalanx of the 5th finger | |
| Absent epiphysis of the proximal phalanx of the 5th finger | |
| Aplasia/Hypoplasia of the middle phalanx of the 5th finger | |
| Absent middle phalanx of 5th finger | |
| Abnormal form of the 5th finger | |
| Abnormal calcification of the carpal bones | |
| Stippling of the epiphysis of the distal phalanx of the 5th finger | |
| Fragmentation of the epiphysis of the distal phalanx of the 5th finger | |
| Irregular epiphysis of the distal phalanx of the 5th finger | |
| Bullet-shaped middle phalanx of the 5th finger | |
| Broad middle phalanx of the 5th finger | |
| Osteolytic defects of the middle phalanx of the 5th finger | |
| Triangular epiphyses of the metacarpals | |
| Abnormality of the phalanges of the 4th finger | |
| Curved middle phalanx of the 5th finger | |
| Abnormality of the epiphyses of the 4th finger | |
| Patchy sclerosis of the middle phalanx of the 5th finger | |
| Proximal/middle symphalangism of 5th finger | |
| Symphalangism of middle phalanx of 5th finger | |
| Deviation of the 5th finger | |
| Ulnar deviation of the 5th finger | |
| Triangular shaped middle phalanx of the 5th finger | |
| Joint contracture of the 5th finger | |
| Contracture of the distal interphalangeal joint of the 5th finger | |
| Contracture of the proximal interphalangeal joint of the 5th finger | |
| Contracture of the metacarpophalangeal joint of the 5th finger | |
| Bracket epiphysis of the distal phalanx of the 5th finger | |
| Pseudoepiphysis of the distal phalanx of the 5th finger | |
| Fragmentation of the metacarpal epiphyses | |
| Irregular epiphyses of the metacarpals | |
| Ivory epiphyses of the metacarpals | |
| Aplasia/Hypoplasia of the proximal phalanx of the 5th finger | |
| Pseudoepiphyses of the metacarpals | |
| Small epiphyses of the metacarpals | |
| Epiphyseal stippling of the metacarpals | |
| Absent metacarpal epiphyses | |
| Bracket epiphysis of the proximal phalanx of the 5th finger | |
| Abnormality of the epiphysis of the distal phalanx of the 5th finger | |
| Irregular epiphysis of the proximal phalanx of the 5th finger | |
| Pseudoepiphysis of the proximal phalanx of the 5th finger | |
| Stippling of the epiphysis of the proximal phalanx of the 5th finger | |
| Fragmentation of the epiphysis of the proximal phalanx of the 5th finger | |
| Absent epiphysis of the middle phalanx of the 5th finger | |
| Bracket epiphysis of the middle phalanx of the 5th finger | |
| Cone-shaped epiphysis of the middle phalanx of the 5th finger | |
| Enlarged epiphysis of the middle phalanx of the 5th finger | |
| Fragmentation of the epiphysis of the middle phalanx of the 5th finger | |
| Irregular epiphysis of the middle phalanx of the 5th finger | |
| Ivory epiphysis of the middle phalanx of the 5th finger | |
| Pseudoepiphysis of the middle phalanx of the 5th finger | |
| Small epiphysis of the middle phalanx of the 5th finger | |
| Stippling of the epiphysis of the middle phalanx of the 5th finger | |
| Triangular epiphysis of the middle phalanx of the 5th finger | |
| Absent epiphysis of the middle phalanx of the 4th finger | |
| Bracket epiphysis of the middle phalanx of the 4th finger | |
| Cone-shaped epiphysis of the middle phalanx of the 4th finger | |
| Enlarged epiphysis of the middle phalanx of the 4th finger | |
| Fragmentation of the epiphysis of the middle phalanx of the 4th finger | |
| Irregular epiphysis of the middle phalanx of the 4th finger | |
| Ivory epiphysis of the middle phalanx of the 4th finger | |
| Pseudoepiphysis of the middle phalanx of the 4th finger | |
| Small epiphysis of the middle phalanx of the 4th finger | |
| Stippling of the epiphysis of the middle phalanx of the 4th finger | |
| Triangular epiphysis of the middle phalanx of the 4th finger | |
| Aplasia of the proximal phalanx of the 5th finger | |
| Short proximal phalanx of the 5th finger | |
| Broad proximal phalanx of the 5th finger | |
| Bullet-shaped proximal phalanx of the 5th finger | |
| Curved proximal phalanx of the 5th finger | |
| Osteolytic defects of the proximal phalanx of the 5th finger | |
| Patchy sclerosis of the proximal phalanx of the 5th finger | |
| Symphalangism affecting the proximal phalanx of the 5th finger | |
| Triangular shaped proximal phalanx of the 5th finger | |
| Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal | |
| Rhomboid or triangular shaped 5th finger proximal phalanx | |
| Short 5th finger | |
| Aplasia of the 5th finger | |
| Aplasia/Hypoplasia of the distal phalanx of the 5th finger | |
| Broad distal phalanx of the 5th finger | |
| Bullet-shaped distal phalanx of the 5th finger | |
| Osteolytic defects of the distal phalanx of the 5th finger | |
| Patchy sclerosis of the distal phalanx of the 5th finger | |
| Distal/middle symphalangism of 5th finger | |
| Triangular shaped distal phalanx of the 5th finger | |
| Aplasia of the distal phalanx of the 5th finger | |
| Abnormality of the epiphysis of the middle phalanx of the 4th finger | |
| Abnormality of the epiphysis of the proximal phalanx of the 4th finger | |
| Abnormality of the epiphysis of the distal phalanx of the 4th finger | |
| Absent epiphysis of the distal phalanx of the 4th finger | |
| Bracket epiphysis of the distal phalanx of the 4th finger | |
| Cone-shaped epiphysis of the distal phalanx of the 4th finger | |
| Enlarged epiphysis of the distal phalanx of the 4th finger | |
| Fragmentation of the epiphysis of the distal phalanx of the 4th finger | |
| Irregular epiphysis of the distal phalanx of the 4th finger | |
| Ivory epiphysis of the distal phalanx of the 4th finger | |
| Pseudoepiphysis of the distal phalanx of the 4th finger | |
| Small epiphysis of the distal phalanx of the 4th finger | |
| Stippling of the epiphysis of the distal phalanx of the 4th finger | |
| Triangular epiphysis of the distal phalanx of the 4th finger | |
| Absent epiphysis of the proximal phalanx of the 4th finger | |
| Bracket epiphysis of the proximal phalanx of the 4th finger | |
| Cone-shaped epiphysis of the proximal phalanx of the 4th finger | |
| Enlarged epiphysis of the proximal phalanx of the 4th finger | |
| Fragmentation of the epiphysis of the proximal phalanx of the 4th finger | |
| Irregular epiphysis of the proximal phalanx of the 4th finger | |
| Ivory epiphysis of the proximal phalanx of the 4th finger | |
| Pseudoepiphysis of the proximal phalanx of the 4th finger | |
| Small epiphysis of the proximal phalanx of the 4th finger | |
| Stippling of the epiphysis of the proximal phalanx of the 4th finger | |
| Triangular epiphysis of the proximal phalanx of the 4th finger | |
| Aplasia/Hypoplasia of the 4th finger | |
| Deviation of the 4th finger | |
| Joint contracture of the 4th finger | |
| Contracture of the distal interphalangeal joint of the 4th finger | |
| Contracture of the proximal interphalangeal joint of the 4th finger | |
| Contracture of the metacarpophalangeal joint of the 4th finger | |
| Ulnar deviation of the 4th finger | |
| Radial deviation of the 4th finger | |
| Short 4th finger | |
| Aplasia of the 4th finger | |
| Abnormality of the distal phalanx of the 4th finger | |
| Abnormality of the middle phalanx of the 4th finger | |
| Abnormality of the proximal phalanx of the 4th finger | |
| Curved phalanges of the 4th finger | |
| Curved distal phalanx of the 4th finger | |
| Curved middle phalanx of the 4th finger | |
| Curved proximal phalanx of the 4th finger | |
| Aplasia/Hypoplasia of the distal phalanx of the 4th finger | |
| Short distal phalanx of the 4th finger | |
| Aplasia of the distal phalanx of the 4th finger | |
| Broad distal phalanx of the 4th finger | |
| Broad middle phalanx of the 4th finger | |
| Absent middle phalanx of 4th finger | |
| Short middle phalanx of the 4th finger | |
| Bullet-shaped middle phalanx of the 4th finger | |
| Osteolytic defects of the middle phalanx of the 4th finger | |
| Aplasia of the proximal phalanx of the 4th finger | |
| Aplasia/Hypoplasia of the middle phalanx of the 4th finger | |
| Aplasia/Hypoplasia of the proximal phalanx of the 4th finger | |
| Short proximal phalanx of the 4th finger | |
| Bullet-shaped distal phalanx of the 4th finger | |
| Osteolytic defects of the distal phalanx of the 4th finger | |
| Patchy sclerosis of the distal phalanx of the 4th finger | |
| Distal/middle symphalangism of 4th finger | |
| Triangular shaped distal phalanx of the 4th finger | |
| Patchy sclerosis of the middle phalanx of the 4th finger | |
| Symphalangism of middle phalanx of 4th finger | |
| Triangular shaped middle phalanx of the 4th finger | |
| Broad proximal phalanx of the 4th finger | |
| Bullet-shaped proximal phalanx of the 4th finger | |
| Osteolytic defects of the proximal phalanx of the 4th finger | |
| Patchy sclerosis of the proximal phalanx of the 4th finger | |
| Symphalangism affecting the proximal phalanx of the 4th finger | |
| Triangular shaped proximal phalanx of the 4th finger | |
| Abnormality of the phalanges of the 3rd finger | |
| Deviation of the 3rd finger | |
| Aplasia/Hypoplasia of the 3rd finger | |
| Joint contracture of the 3rd finger | |
| Abnormality of the epiphyses of the 3rd finger | |
| Absent epiphysis of the middle phalanx of the 3rd finger | |
| Bracket epiphysis of the middle phalanx of the 3rd finger | |
| Cone-shaped epiphysis of the middle phalanx of the 3rd finger | |
| Enlarged epiphysis of the middle phalanx of the 3rd finger | |
| Fragmentation of the epiphysis of the middle phalanx of the 3rd finger | |
| Irregular epiphysis of the middle phalanx of the 3rd finger | |
| Ivory epiphysis of the middle phalanx of the 3rd finger | |
| Pseudoepiphysis of the middle phalanx of the 3rd finger | |
| Small epiphysis of the middle phalanx of the 3rd finger | |
| Stippling of the epiphysis of the middle phalanx of the 3rd finger | |
| Triangular epiphysis of the middle phalanx of the 3rd finger | |
| Abnormality of the epiphysis of the distal phalanx of the 3rd finger | |
| Abnormality of the epiphysis of the proximal phalanx of the 3rd finger | |
| Abnormality of the epiphysis of the middle phalanx of the 3rd finger | |
| Absent epiphysis of the distal phalanx of the 3rd finger | |
| Bracket epiphysis of the distal phalanx of the 3rd finger | |
| Cone-shaped epiphysis of the distal phalanx of the 3rd finger | |
| Enlarged epiphysis of the distal phalanx of the 3rd finger | |
| Fragmentation of the epiphysis of the distal phalanx of the 3rd finger | |
| Irregular epiphysis of the distal phalanx of the 3rd finger | |
| Ivory epiphysis of the distal phalanx of the 3rd finger | |
| Pseudoepiphysis of the distal phalanx of the 3rd finger | |
| Small epiphysis of the distal phalanx of the 3rd finger | |
| Stippling of the epiphysis of the distal phalanx of the 3rd finger | |
| Triangular epiphysis of the distal phalanx of the 3rd finger | |
| Absent epiphysis of the proximal phalanx of the 3rd finger | |
| Bracket epiphysis of the proximal phalanx of the 3rd finger | |
| Cone-shaped epiphysis of the proximal phalanx of the 3rd finger | |
| Enlarged epiphysis of the proximal phalanx of the 3rd finger | |
| Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger | |
| Irregular epiphysis of the proximal phalanx of the 3rd finger | |
| Ivory epiphysis of the proximal phalanx of the 3rd finger | |
| Pseudoepiphysis of the proximal phalanx of the 3rd finger | |
| Small epiphysis of the proximal phalanx of the 3rd finger | |
| Stippling of the epiphysis of the proximal phalanx of the 3rd finger | |
| Triangular epiphysis of the proximal phalanx of the 3rd finger | |
| Abnormality of the distal phalanx of the 3rd finger | |
| Abnormality of the proximal phalanx of the 3rd finger | |
| Type A brachydactyly | |
| Type A1 brachydactyly | |
| Type A2 brachydactyly | |
| Type C brachydactyly | |
| Broad phalanges of the 5th finger | |
| Bullet-shaped phalanges of the 5th finger | |
| Aplasia/Hypoplasia of the phalanges of the 5th finger | |
| Patchy sclerosis of 5th finger phalanx | |
| Triangular shaped phalanges of the 5th finger | |
| Rhomboid or triangular shaped 5th finger distal phalanx | |
| Aplasia of the fingers | |
| Short finger | |
| Absent epiphyses of the 5th finger | |
| Bracket epiphyses of the 5th finger | |
| Cone-shaped epiphyses of the 5th finger | |
| Enlarged epiphyses of the 5th finger | |
| Fragmentation of the epiphyses of the 5th finger | |
| Irregular epiphyses of the 5th finger | |
| Ivory epiphyses of the 5th finger | |
| Pseudoepiphyses of the 5th finger | |
| Small epiphyses of the 5th finger | |
| Stippling of the epiphyses of the 5th finger | |
| Triangular epiphyses of the 5th finger | |
| Absent epiphyses of the 4th finger | |
| Bracket epiphyses of the 4th finger | |
| Cone-shaped epiphyses of the 4th finger | |
| Enlarged epiphyses of the 4th finger | |
| Fragmentation of the epiphyses of the 4th finger | |
| Irregular epiphyses of the 4th finger | |
| Ivory epiphyses of the 4th finger | |
| Pseudoepiphyses of the 4th finger | |
| Small epiphyses of the 4th finger | |
| Stippling of the epiphyses of the 4th finger | |
| Triangular epiphyses of the 4th finger | |
| Broad phalanges of the 4th finger | |
| Bullet-shaped phalanges of the 4th finger | |
| Patchy sclerosis of 4th finger phalanx | |
| Triangular shaped phalanges of the 4th finger | |
| Aplasia/Hypoplasia of the phalanges of the 4th finger | |
| Absent epiphyses of the 3rd finger | |
| Bracket epiphyses of the 3rd finger | |
| Cone-shaped epiphyses of the 3rd finger | |
| Enlarged epiphyses of the 3rd finger | |
| Fragmentation of the epiphyses of the 3rd finger | |
| Irregular epiphyses of the 3rd finger | |
| Ivory epiphyses of the 3rd finger | |
| Pseudoepiphyses of the 3rd finger | |
| Small epiphyses of the 3rd finger | |
| Stippling of the epiphyses of the 3rd finger | |
| Triangular epiphyses of the 3rd finger | |
| Aplasia/Hypoplasia of the distal phalanx of the 3rd finger | |
| Broad distal phalanx of the 3rd finger | |
| Bullet-shaped distal phalanx of the 3rd finger | |
| Osteolytic defects of the distal phalanx of the 3rd finger | |
| Patchy sclerosis of the distal phalanx of the 3rd finger | |
| Distal/middle symphalangism of 3rd finger | |
| Triangular shaped distal phalanx of the 3rd finger | |
| Curved distal phalanx of the 3rd finger | |
| Aplasia of the distal phalanx of the 3rd finger | |
| Broad middle phalanx of the 3rd finger | |
| Bullet-shaped middle phalanx of the 3rd finger | |
| Curved middle phalanx of the 3rd finger | |
| Osteolytic defects of the middle phalanx of the 3rd finger | |
| Patchy sclerosis of the middle phalanx of the 3rd finger | |
| Symphalangism of middle phalanx of 3rd finger | |
| Triangular shaped middle phalanx of the 3rd finger | |
| Aplasia/Hypoplasia of the middle phalanx of the 3rd finger | |
| Absent middle phalanx of 3rd finger | |
| Short middle phalanx of the 3rd finger | |
| Broad phalanges of the 3rd finger | |
| Bullet-shaped phalanges of the 3rd finger | |
| Curved phalanges of the 3rd finger | |
| Osteolytic defects of the phalanges of the 3rd finger | |
| Patchy sclerosis of 3rd finger phalanx | |
| Symphalangism of the 3rd finger | |
| Triangular shaped phalanges of the 3rd finger | |
| Aplasia/Hypoplasia of the phalanges of the 3rd finger | |
| Aplasia of the phalanges of the 3rd finger | |
| Hypoplastic/small phalanges of the 3rd finger | |
| Broad proximal phalanx of the 3rd finger | |
| Bullet-shaped proximal phalanx of the 3rd finger | |
| Curved proximal phalanx of the 3rd finger | |
| Osteolytic defects of the proximal phalanx of the 3rd finger | |
| Patchy sclerosis of the proximal phalanx of the 3rd finger | |
| Symphalangism affecting the proximal phalanx of the 3rd finger | |
| Triangular shaped proximal phalanx of the 3rd finger | |
| Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger | |
| Aplasia of the proximal phalanx of the 3rd finger | |
| Short proximal phalanx of the 3rd finger | |
| Aplasia of the 3rd finger | |
| Short 3rd finger | |
| Radial deviation of the 3rd finger | |
| Ulnar deviation of the 3rd finger | |
| Ulnar deviation of the 2nd finger | |
| Ulnar deviation of finger | |
| Radial deviation of finger | |
| Radial deviation of the 2nd finger | |
| Deviation of the 2nd finger | |
| Contracture of the distal interphalangeal joint of the 3rd finger | |
| Contracture of the metacarpophalangeal joint of the 3rd finger | |
| Contracture of the proximal interphalangeal joint of the 3rd finger | |
| Joint contracture of the hand | |
| Proximal/middle symphalangism of 4th finger | |
| Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal | |
| Proximal/middle symphalangism of 3rd finger | |
| Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal | |
| Deviation of the hand or of fingers of the hand | |
| Radial deviation of the hand or of fingers of the hand | |
| Radial deviation of the hand | |
| Ulnar deviation of the hand | |
| Absent epiphyses of the 2nd finger | |
| Bracket epiphyses of the 2nd finger | |
| Cone-shaped epiphyses of the 2nd finger | |
| Enlarged epiphyses of the 2nd finger | |
| Fragmentation of the epiphyses of the 2nd finger | |
| Irregular epiphyses of the 2nd finger | |
| Ivory epiphyses of the 2nd finger | |
| Pseudoepiphyses of the 2nd finger | |
| Small epiphyses of the 2nd finger | |
| Stippling of the epiphyses of the 2nd finger | |
| Triangular epiphyses of the 2nd finger | |
| Abnormality of the epiphysis of the distal phalanx of the 2nd finger | |
| Abnormality of the epiphysis of the middle phalanx of the 2nd finger | |
| Abnormality of the epiphysis of the proximal phalanx of the 2nd finger | |
| Absent epiphysis of the distal phalanx of the 2nd finger | |
| Bracket epiphysis of the distal phalanx of the 2nd finger | |
| Cone-shaped epiphysis of the distal phalanx of the 2nd finger | |
| Enlarged epiphysis of the distal phalanx of the 2nd finger | |
| Fragmentation of the epiphysis of the distal phalanx of the 2nd finger | |
| Irregular epiphysis of the distal phalanx of the 2nd finger | |
| Ivory epiphysis of the distal phalanx of the 2nd finger | |
| Pseudoepiphysis of the distal phalanx of the 2nd finger | |
| Small epiphysis of the distal phalanx of the 2nd finger | |
| Stippling of the epiphysis of the distal phalanx of the 2nd finger | |
| Triangular epiphysis of the distal phalanx of the 2nd finger | |
| Absent epiphysis of the middle phalanx of the 2nd finger | |
| Bracket epiphysis of the middle phalanx of the 2nd finger | |
| Cone-shaped epiphysis of the middle phalanx of the 2nd finger | |
| Enlarged epiphysis of the middle phalanx of the 2nd finger | |
| Fragmentation of the epiphysis of the middle phalanx of the 2nd finger | |
| Irregular epiphysis of the middle phalanx of the 2nd finger | |
| Ivory epiphysis of the middle phalanx of the 2nd finger | |
| Pseudoepiphysis of the middle phalanx of the 2nd finger | |
| Small epiphysis of the middle phalanx of the 2nd finger | |
| Stippling of the epiphysis of the middle phalanx of the 2nd finger | |
| Triangular epiphysis of the middle phalanx of the 2nd finger | |
| Absent epiphysis of the proximal phalanx of the 2nd finger | |
| Bracket epiphysis of the proximal phalanx of the 2nd finger | |
| Cone-shaped epiphysis of the proximal phalanx of the 2nd finger | |
| Enlarged epiphysis of the proximal phalanx of the 2nd finger | |
| Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger | |
| Irregular epiphysis of the proximal phalanx of the 2nd finger | |
| Ivory epiphysis of the proximal phalanx of the 2nd finger | |
| Pseudoepiphysis of the proximal phalanx of the 2nd finger | |
| Small epiphysis of the proximal phalanx of the 2nd finger | |
| Stippling of the epiphysis of the proximal phalanx of the 2nd finger | |
| Triangular epiphysis of the proximal phalanx of the 2nd finger | |
| Aplasia of the 2nd finger | |
| Short 2nd finger | |
| Flexion contracture of the 2nd finger | |
| Contracture of the distal interphalangeal joint of the 2nd finger | |
| Contracture of the metacarpophalangeal joint of the 2nd finger | |
| Contracture of the proximal interphalangeal joint of the 2nd finger | |
| Abnormality of the phalanges of the 2nd finger | |
| Abnormality of the distal phalanx of the 2nd finger | |
| Abnormality of the middle phalanx of the 2nd finger | |
| Abnormality of the proximal phalanx of the 2nd finger | |
| Symphalangism of the 2nd finger | |
| Triangular shaped phalanges of the 2nd finger | |
| Broad phalanges of the 2nd finger | |
| Bullet-shaped phalanges of the 2nd finger | |
| Curved phalanges of the 2nd finger | |
| Osteolytic defects of the phalanges of the 2nd finger | |
| Patchy sclerosis of 2nd finger phalanx | |
| Aplasia/Hypoplasia of the phalanges of the 2nd finger | |
| Abnormality of the hairline | |
| Projection of scalp hair onto lateral cheek | |
| Hypoplasia of the pharynx | |
| Absent tibia | |
| Aplasia/Hypoplasia of the distal phalanx of the 2nd finger | |
| Broad distal phalanx of the 2nd finger | |
| Bullet-shaped distal phalanx of the 2nd finger | |
| Curved distal phalanx of the 2nd finger | |
| Osteolytic defects of the distal phalanx of the 2nd finger | |
| Patchy sclerosis of the distal phalanx of the 2nd finger | |
| Distal/middle symphalangism of 2nd finger | |
| Triangular shaped distal phalanx of the 2nd finger | |
| Aplasia of the distal phalanx of the 2nd finger | |
| Short distal phalanx of the 2nd finger | |
| Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | |
| Broad middle phalanx of the 2nd finger | |
| Bullet-shaped middle phalanx of the 2nd finger | |
| Curved middle phalanx of the 2nd finger | |
| Osteolytic defects of the middle phalanx of the 2nd finger | |
| Patchy sclerosis of the middle phalanx of the 2nd finger | |
| Symphalangism of middle phalanx of 2nd finger | |
| Triangular shaped middle phalanx of the 2nd finger | |
| Absent middle phalanx of 2nd finger | |
| Short middle phalanx of the 2nd finger | |
| Proximal/middle symphalangism of the 2nd finger | |
| Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger | |
| Broad proximal phalanx of the 2nd finger | |
| Bullet-shaped proximal phalanx of the 2nd finger | |
| Curved proximal phalanx of the 2nd finger | |
| Osteolytic defects of the proximal phalanx of the 2nd finger | |
| Patchy sclerosis of the proximal phalanx of the 2nd finger | |
| Symphalangism affecting the proximal phalanx of the 2nd finger | |
| Triangular shaped proximal phalanx of the 2nd finger | |
| Vestibular Schwannoma | |
| Bilateral vestibular Schwannoma | |
| Unilateral vestibular Schwannoma | |
| Abnormality of the vestibulocochlear nerve | |
| Astrocytoma | |
| Peripheral Schwannoma | |
| Retinal hamartoma | |
| Occasional neurofibromas | |
| Aplasia of the proximal phalanx of the 2nd finger | |
| Short proximal phalanx of the 2nd finger | |
| Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal | |
| Abnormality of thumb epiphysis | |
| Flexion contracture of thumb | |
| Aplasia/Hypoplasia of the thumb | |
| Abnormality of thumb phalanx | |
| Deviation of the thumb | |
| Complete duplication of distal phalanx of the thumb | |
| Complete duplication of proximal phalanx of the thumb | |
| Duplication of the 1st metacarpal | |
| Bifid distal phalanx of the thumb | |
| Duplication of the distal phalanx of the thumb | |
| Duplication of the proximal phalanx of the thumb | |
| Bifid proximal phalanx of the thumb | |
| Complete duplication of the first metacarpal | |
| Bifid first metacarpal | |
| Abnormality of the distal phalanx of the thumb | |
| Abnormality of the proximal phalanx of the thumb | |
| Radial deviation of the thumb | |
| Ulnar deviation of the thumb | |
| Distally placed thumb | |
| Proximal placement of thumb | |
| Contractures of the carpometacarpal joint of the thumb | |
| Contractures of the metacarpophalangeal joint of the thumb | |
| Contractures of the interphalangeal joint of the thumb | |
| Aplasia/Hypoplasia of the proximal phalanx of the thumb | |
| Broad proximal phalanx of the thumb | |
| Bullet-shaped proximal phalanx of the thumb | |
| Curved proximal phalanx of the thumb | |
| Osteolytic defect of the proximal phalanx of the thumb | |
| Patchy sclerosis of the proximal phalanx of the thumb | |
| Synostosis of thumb phalanx | |
| Triangular shaped proximal phalanx of the thumb | |
| Absent proximal phalanx of thumb | |
| Short proximal phalanx of thumb | |
| Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal | |
| Aplasia/Hypoplasia of the distal phalanx of the thumb | |
| Broad distal phalanx of the thumb | |
| Bullet-shaped distal phalanx of the thumb | |
| Curved distal phalanx of the thumb | |
| Osteolytic defect of the distal phalanx of the thumb | |
| Patchy sclerosis of the distal phalanx of the thumb | |
| Triangular shaped distal phalanx of the thumb | |
| Aplasia of the distal phalanx of the thumb | |
| Short distal phalanx of the thumb | |
| Bullet-shaped thumb phalanx | |
| Curved thumb phalanx | |
| Osteolytic defect of thumb phalanx | |
| Patchy sclerosis of thumb phalanx | |
| Symphalangism of the thumb | |
| Triangular shaped thumb phalanx | |
| Aplasia/Hypoplasia of the phalanges of the thumb | |
| Partial absence of thumb | |
| Short phalanx of the thumb | |
| Abnormality of the epiphysis of the distal phalanx of the thumb | |
| Abnormality of the epiphysis of the proximal phalanx of the thumb | |
| Absent epiphysis of the proximal phalanx of the thumb | |
| Bracket epiphysis of the proximal phalanx of the thumb | |
| Cone-shaped epiphysis of the proximal phalanx of the thumb | |
| Enlarged epiphysis of the proximal phalanx of the thumb | |
| Fragmentation of the epiphysis of the proximal phalanx of the thumb | |
| Irregular epiphysis of the proximal phalanx of the thumb | |
| Ivory epiphysis of the proximal phalanx of the thumb | |
| Pseudoepiphysis of the proximal phalanx of the thumb | |
| Small epiphysis of the proximal phalanx of the thumb | |
| Stippling of the epiphysis of the proximal phalanx of the thumb | |
| Triangular epiphysis of the proximal phalanx of the thumb | |
| Absent epiphysis of the distal phalanx of the thumb | |
| Bracket epiphysis of the distal phalanx of the thumb | |
| Cone-shaped epiphysis of the distal phalanx of the thumb | |
| Enlarged epiphysis of the distal phalanx of the thumb | |
| Fragmentation of the epiphysis of the distal phalanx of the thumb | |
| Irregular epiphysis of the distal phalanx of the thumb | |
| Ivory epiphysis of the distal phalanx of the thumb | |
| Pseudoepiphysis of the distal phalanx of the thumb | |
| Small epiphysis of the distal phalanx of the thumb | |
| Stippling of the epiphysis of the distal phalanx of the thumb | |
| Triangular epiphysis of the distal phalanx of the thumb | |
| Absent epiphyses of the thumb | |
| Bracket epiphyses of the thumb | |
| Cone-shaped epiphysis of the thumb | |
| Enlarged thumb epiphysis | |
| Fragmentation of thumb epiphysis | |
| Irregular thumb epiphysis | |
| Ivory epiphysis of the thumb | |
| Pseudoepiphysis of the thumb | |
| Small thumb epiphysis | |
| Stippling of thumb epiphysis | |
| Triangular epiphyses of the thumb | |
| Contracture of the distal interphalangeal joints of the fingers | |
| Osteolytic defects of the hand bones | |
| Synostosis involving bones of the fingers | |
| Metacarpal synostosis | |
| Carpal synostosis | |
| Synostosis involving the 1st metacarpal | |
| Chronic CSF lymphocytosis | |
| Synostosis involving the 2nd metacarpal | |
| Synostosis involving the 3rd metacarpal | |
| Synostosis involving the 4th metacarpal | |
| Synostosis involving the 5th metacarpal | |
| Increased CSF interferon alpha | |
| Chilblain lesions | |
| Retinal hemangioblastoma | |
| Spinal hemangioblastoma | |
| Abnormality of the epididymis | |
| Papillary cystadenoma of the epididymis | |
| Subependymal nodules | |
| Cortical tubers | |
| Subependymal giant-cell astrocytoma | |
| Hypomelanotic macules | |
| Adenoma sebaceum | |
| Shagreen patch | |
| Dental enamel pits | |
| Abnormality of the subungual region | |
| Subungual fibromas | |
| Bladder neoplasm | |
| Renal neoplasm | |
| Achromatic retinal patches | |
| Neoplasm of striated muscle | |
| Cardiac rhabdomyoma | |
| Rhabdomyoma | |
| Cerebral hamartomata | |
| Plexiform neurofibroma | |
| Glioma | |
| Optic glioma | |
| Spinal neurofibromas | |
| Tibial pseudoarthrosis | |
| Lisch nodules | |
| Abnormality of the antihelix | |
| Hypoplasia of the antihelix | |
| Aplasia of the parotid gland | |
| Nephrosclerosis | |
| Stiff shoulders | |
| Distichiasis | |
| Abnormality of the spinal dura mater | |
| Spinalarachnoid cyst | |
| Thick nasal septum | |
| Lumbosacral hirsutism | |
| Large earlobe | |
| Aplasia of the pectoralis major muscle | |
| Cleft in skull base | |
| Fibrous syngnathia | |
| Ankyloblepharon | |
| Popliteal pterygium | |
| Intercrural pterygium | |
| Pyramidal skinfold extending from the base to the top of the nails | |
| Neck pterygia | |
| Antecubital pterygium | |
| Anterior clefting of vertebral bodies | |
| Facial wrinkling | |
| Limb pain | |
| Low hanging columella | |
| Aplasia/Hypoplasia of the phalanges of the hand | |
| Broad phalanges of the hand | |
| Bullet-shaped phalanges of the hand | |
| Curved phalanges of the hand | |
| Osteolytic defects of the phalanges of the hand | |
| Patchy sclerosis of finger phalanx | |
| Symphalangism affecting the phalanges of the hand | |
| Triangular shaped phalanges of the hand | |
| Amniotic constriction ring | |
| Adactyly | |
| Absent thumb | |
| Short thumb | |
| 3-4 toe syndactyly | |
| Iliac horns | |
| Lester's sign | |
| Aplasia/Hypoplasia of the biceps | |
| Biceps aplasia | |
| Aplasia/Hypoplasia of the triceps | |
| Triceps aplasia | |
| Aplasia/Hypoplasia of the musculature of the thigh | |
| Aplasia/Hypoplasia of the quadriceps | |
| Quadriceps aplasia | |
| Perianal abscess | |
| Hemisacrum (S2-S5) | |
| Bifid sacrum | |
| Teratoma | |
| Presacral teratoma | |
| Branchial anomaly | |
| Branchial fistula | |
| Branchial cyst | |
| Cholesteatoma | |
| Euthyroid goiter | |
| Supernumerary spleens | |
| Maternal diabetes | |
| Aplasia of the phalanges of the hand | |
| Short phalanx of finger | |
| Reduced number of teeth | |
| Low-output congestive heart failure | |
| Nephrogenic diabetes insipidus | |
| Anomaly of the upper limb diaphyses | |
| Abnormality of upper limb metaphysis | |
| Abnormality of the joints of the upper limbs | |
| Abnormality of the elbow | |
| Amelia involving the upper limbs | |
| Upper limb phocomelia | |
| Upper limb peromelia | |
| Aplasia/hypoplasia of the extremities | |
| Lower limb undergrowth | |
| Aplasia involving bones of the lower limbs | |
| Amelia involving the lower limbs | |
| Lower limb phocomelia | |
| Lower limb peromelia | |
| Forearm undergrowth | |
| Aplasia involving forearm bones | |
| Aplasia involving bones of the upper limbs | |
| Upper limb undergrowth | |
| Aplasia involving bones of the extremities | |
| Limb undergrowth | |
| Amelia | |
| Peromelia | |
| Phocomelia | |
| Peripheral neuropathy | |
| Mononeuropathy | |
| Abnormality of the distal phalanx of finger | |
| Abnormality of the middle phalanges of the hand | |
| Abnormality of the proximal phalanges of the hand | |
| Aplasia/Hypoplasia of the distal phalanges of the hand | |
| Broad distal phalanx of finger | |
| Bullet-shaped distal phalanges of the hand | |
| Curved distal phalanges of the hand | |
| Osteolytic defects of the distal phalanges of the hand | |
| Patchy sclerosis of distal phalanx of finger | |
| Aplasia/Hypoplasia of the middle phalanges of the hand | |
| Broad middle phalanx of finger | |
| Bullet-shaped middle phalanges of the hand | |
| Curved middle phalanges of the hand | |
| Osteolytic defects of the middle phalanges of the hand | |
| Patchy sclerosis of middle phalanx of finger | |
| Symphalangism of middle phalanx of finger | |
| Triangular shaped middle phalanges of the hand | |
| Aplasia/Hypoplasia of the proximal phalanges of the hand | |
| Broad proximal phalanges of the hand | |
| Bullet-shaped proximal phalanges of the hand | |
| Curved proximal phalanges of the hand | |
| Osteolytic defects of the proximal phalanges of the hand | |
| Patchy sclerosis of proximal phalanx of finger | |
| Symphalangism affecting the proximal phalanges of the hand | |
| Triangular shaped proximal phalanges of the hand | |
| Triangular shaped distal phalanges of the hand | |
| Cerebellar ataxia associated with quadrupedal gait | |
| Cortical gyral simplification | |
| Broad distal phalanges of all fingers | |
| Aplasia of the distal phalanges of the hand | |
| Short distal phalanx of finger | |
| Duplication of the distal phalanx of hand | |
| Tapered distal phalanges of finger | |
| Prenatal short stature | |
| Trichorrhexis nodosa | |
| Abnormality of hair pigmentation | |
| Abnormality of secondary sexual hair | |
| Localized hirsutism | |
| High anterior hairline | |
| Underdeveloped supraorbital ridges | |
| Anotia | |
| Telangiectasia of the ear | |
| Thickened ears | |
| Abnormality of the crus of the helix | |
| Abnormality of the antitragus | |
| Horizontal crus of helix | |
| Underdeveloped crus of the helix | |
| Prominent crus of helix | |
| Unilateral deafness | |
| Crumpled ear | |
| Cleft helix | |
| Conjunctival nodule | |
| Prominent ear helix | |
| Thin ear helix | |
| Aplasia/Hypoplasia of the earlobes | |
| Attached earlobe | |
| Anterior creases of earlobe | |
| Uplifted earlobe | |
| Aplasia of the middle ear ossicles | |
| Abnormality of the temporal bone | |
| Abnormality of the tragus | |
| Aplasia/Hypoplasia of the tragus | |
| Cyclopia | |
| Corneal asymmetry | |
| Anisocoria | |
| Persistent pupillary membrane | |
| Ectopia pupillae | |
| Retinoblastoma | |
| Nevus of Ota | |
| Duane anomaly | |
| Persistence of the hyaloid artery | |
| Aplasia/Hypoplasia involving the nose | |
| Increased lacrimation | |
| Aplasia of the nose | |
| Thick nasal alae | |
| Abnormality of the columella | |
| Asymmetry of the nares | |
| Enlarged naris | |
| Single naris | |
| Narrow naris | |
| Supernumerary naris | |
| Aplasia/Hypoplasia of the nasal septum | |
| Narrow nasal septum | |
| Facial hirsutism | |
| Sunken cheeks | |
| Mandibular aplasia | |
| Asymmetry of the mandible | |
| Asymmetry of the mouth | |
| Duplication of thumb phalanx | |
| Complete duplication of thumb phalanx | |
| Partial duplication of thumb phalanx | |
| Duplication of phalanx of 2nd finger | |
| Polydactyly affecting the 2nd finger | |
| Duplication of the proximal phalanx of the 2nd finger | |
| Duplication of the distal phalanx of the 2nd finger | |
| Duplication of the middle phalanx of the 2nd finger | |
| Complete duplication of the distal phalanx of the 2nd finger | |
| Partial duplication of the distal phalanx of the 2nd finger | |
| Complete duplication of the middle phalanx of the 2nd finger | |
| Partial duplication of the middle phalanx of the 2nd finger | |
| Complete duplication of the proximal phalanx of the 2nd finger | |
| Partial duplication of the proximal phalanx of the 2nd finger | |
| Partial duplication of the phalanges of the 2nd finger | |
| Complete duplication of the phalanges of the 2nd finger | |
| Polydactyly affecting the 3rd finger | |
| Duplication of phalanx of 3rd finger | |
| Complete duplication of the phalanges of the 3rd finger | |
| Partial duplication of the phalanges of the 3rd finger | |
| Duplication of the distal phalanx of the 3rd finger | |
| Duplication of the middle phalanx of the 3rd finger | |
| Duplication of the proximal phalanx of the 3rd finger | |
| Complete duplication of the distal phalanx of the 3rd finger | |
| Complete duplication of the middle phalanx of the 3rd finger | |
| Complete duplication of the proximal phalanx of the 3rd finger | |
| Partial duplication of the distal phalanx of the 3rd finger | |
| Partial duplication of the middle phalanx of the 3rd finger | |
| Partial duplication of the proximal phalanx of the 3rd finger | |
| Polydactyly affecting the 4th finger | |
| Duplication of phalanx of 4th finger | |
| Complete duplication of the phalanges of the 4th finger | |
| Partial duplication of the phalanges of the 4th finger | |
| Duplication of the distal phalanx of the 4th finger | |
| Duplication of the middle phalanx of the 4th finger | |
| Duplication of the proximal phalanx of the 4th finger | |
| Complete duplication of the distal phalanx of the 4th finger | |
| Complete duplication of the middle phalanx of the 4th finger | |
| Complete duplication of the proximal phalanx of the 4th finger | |
| Partial duplication of the distal phalanx of the 4th finger | |
| Partial duplication of the middle phalanx of the 4th finger | |
| Partial duplication of the proximal phalanx of the 4th finger | |
| Duplication of phalanx of 5th finger | |
| Complete duplication of the phalanges of the 5th finger | |
| Partial duplication of the phalanges of the 5th finger | |
| Duplication of the distal phalanx of the 5th finger | |
| Duplication of the middle phalanx of the 5th finger | |
| Duplication of the proximal phalanx of the 5th finger | |
| Complete duplication of the distal phalanx of the 5th finger | |
| Complete duplication of the middle phalanx of the 5th finger | |
| Complete duplication of the proximal phalanx of the 5th finger | |
| Partial duplication of the distal phalanx of the 5th finger | |
| Partial duplication of the middle phalanx of the 5th finger | |
| Partial duplication of the proximal phalanx of the 5th finger | |
| Duplication of phalanx of hand | |
| Complete duplication of phalanx of hand | |
| Partial duplication of the phalanx of hand | |
| Complete duplication of the proximal phalanges of the hand | |
| Complete duplication of the distal phalanges of the hand | |
| Complete duplication of the middle phalanges of the hand | |
| Partial duplication of the proximal phalanges of the hand | |
| Partial duplication of the distal phalanges of the hand | |
| Partial duplication of the middle phalanges of the hand | |
| Duplication of the proximal phalanx of hand | |
| Duplication of the middle phalanx of hand | |
| Abnormality of the 1st metacarpal | |
| Abnormality of the 2nd metacarpal | |
| Abnormality of the 3rd metacarpal | |
| Abnormality of the 4th metacarpal | |
| Abnormality of the 5th metacarpal | |
| Abnormality of the epiphysis of the 1st metacarpal | |
| Absent epiphysis of the 1st metacarpal | |
| Bracket epiphysis of the 1st metacarpal | |
| Cone-shaped epiphysis of the 1st metacarpal | |
| Enlarged epiphysis of the 1st metacarpal | |
| Fragmentation of the epiphysis of the 1st metacarpal | |
| Irregular epiphysis of the 1st metacarpal | |
| Ivory epiphysis of the 1st metacarpal | |
| Pseudoepiphysis of the 1st metacarpal | |
| Small epiphysis of the 1st metacarpal | |
| Epiphyseal stippling of the first metacarpal | |
| Triangular epiphysis of the 1st metacarpal | |
| Aplasia/Hypoplasia of the 1st metacarpal | |
| Broad 1st metacarpal | |
| Bullet-shaped 1st metacarpal | |
| Curved 1st metacarpal | |
| Osteolytic defects of the 1st metacarpal | |
| Patchy sclerosis of the 1st metacarpal | |
| Triangular shaped 1st metacarpal | |
| Short 1st metacarpal | |
| Aplasia of the 1st metacarpal | |
| Aplasia/Hypoplasia of the 2nd metacarpal | |
| Aplasia of the 2nd metacarpal | |
| Short 2nd metacarpal | |
| Aplasia/Hypoplasia of the 3rd metacarpal | |
| Aplasia of the 3rd metacarpal | |
| Short 3rd metacarpal | |
| Aplasia/Hypoplasia of the 4th metacarpal | |
| Aplasia of the 4th metacarpal | |
| Short 4th metacarpal | |
| Aplasia/Hypoplasia of the 5th metacarpal | |
| Aplasia of the 5th metacarpal | |
| Short 5th metacarpal | |
| Aplasia of metacarpal bones | |
| Short metacarpal | |
| Deviation of the hallux | |
| Abnormality of the proximal phalanx of the hallux | |
| Abnormality of the distal phalanx of the hallux | |
| Abnormality of the first metatarsal bone | |
| Broad hallux | |
| Abnormality of the epiphyses of the hallux | |
| Abnormality of the phalanges of the hallux | |
| Aplasia/Hypoplasia of the phalanges of the hallux | |
| Broad hallux phalanx | |
| Bullet-shaped hallux phalanx | |
| Curved hallux phalanx | |
| Osteolytic defects of the phalanges of the hallux | |
| Patchy sclerosis of hallux phalanx | |
| Symphalangism affecting the phalanges of the hallux | |
| Triangular shaped phalanges of the hallux | |
| Duplication of phalanx of hallux | |
| Aplasia/hypoplasia of the 1st metatarsal | |
| Broad first metatarsal | |
| Bullet-shaped 1st metatarsal | |
| Curved 1st metatarsal | |
| Osteolytic defects of the 1st metatarsal | |
| Patchy sclerosis of the 1st metatarsal | |
| Synostosis involving the 1st metatarsal | |
| Triangular shaped 1st metatarsal | |
| Duplication of the 1st metatarsal | |
| Aplasia/Hypoplasia of the distal phalanx of the hallux | |
| Broad distal phalanx of the hallux | |
| Bullet-shaped distal phalanx of the hallux | |
| Curved distal phalanx of the hallux | |
| Osteolytic defects of the distal phalanx of the hallux | |
| Patchy sclerosis of the distal phalanx of the hallux | |
| Symphalangism affecting the distal phalanx of the hallux | |
| Triangular shaped distal phalanx of the hallux | |
| Duplication of the distal phalanx of the hallux | |
| Aplasia/Hypoplasia of the proximal phalanx of the hallux | |
| Broad proximal phalanx of the hallux | |
| Bullet-shaped proximal phalanx of the hallux | |
| Curved proximal phalanx of the hallux | |
| Osteolytic defects of the proximal phalanx of the hallux | |
| Patchy sclerosis of the proximal phalanx of the hallux | |
| Symphalangism affecting the proximal phalanx of the hallux | |
| Triangular shaped proximal phalanx of the hallux | |
| Duplication of the proximal phalanx of the hallux | |
| Complete duplication of the proximal phalanx of the hallux | |
| Partial duplication of the proximal phalanx of the hallux | |
| Complete duplication of the distal phalanx of the hallux | |
| Partial duplication of the distal phalanx of the hallux | |
| Complete duplication of the 1st metatarsal | |
| Partial duplication of the 1st metatarsal | |
| Complete duplication of hallux phalanx | |
| Partial duplication of the phalanges of the hallux | |
| Aplasia of the distal phalanx of the hallux | |
| Short distal phalanx of hallux | |
| Absent first metatarsal | |
| Short first metatarsal | |
| Aplasia of the proximal phalanx of the hallux | |
| Short proximal phalanx of hallux | |
| Short hallux | |
| Aplasia of the phalanges of the hallux | |
| Short phalanx of hallux | |
| Mesoaxial foot polydactyly | |
| Absent hallux epiphysis | |
| Bracket epiphyses of the hallux | |
| Cone-shaped epiphyses of the hallux | |
| Enlarged epiphyses of the hallux | |
| Fragmentation of the epiphyses of the hallux | |
| Irregular epiphyses of the hallux | |
| Ivory epiphyses of the hallux | |
| Pseudoepiphyses of the hallux | |
| Small epiphyses of the hallux | |
| Stippling of the epiphyses of the hallux | |
| Triangular epiphyses of the hallux | |
| Abnormality of the epiphysis of the distal phalanx of the hallux | |
| Abnormality of the epiphysis of the 1st metatarsal | |
| Abnormality of the epiphysis of the proximal phalanx of the hallux | |
| Absent epiphysis of the proximal phalanx of the hallux | |
| Bracket epiphysis of the proximal phalanx of the hallux | |
| Cone-shaped epiphysis of the proximal phalanx of the hallux | |
| Enlarged epiphysis of the proximal phalanx of the hallux | |
| Fragmentation of the epiphysis of the proximal phalanx of the hallux | |
| Irregular epiphysis of the proximal phalanx of the hallux | |
| Ivory epiphysis of the proximal phalanx of the hallux | |
| Pseudoepiphysis of the proximal phalanx of the hallux | |
| Small epiphysis of the proximal phalanx of the hallux | |
| Stippling of the epiphysis of the proximal phalanx of the hallux | |
| Triangular epiphysis of the proximal phalanx of the hallux | |
| Absent epiphysis of the distal phalanx of the hallux | |
| Bracket epiphysis of the distal phalanx of the hallux | |
| Cone-shaped epiphysis of the distal phalanx of the hallux | |
| Enlarged epiphysis of the distal phalanx of the hallux | |
| Fragmentation of the epiphysis of the distal phalanx of the hallux | |
| Irregular epiphysis of the distal phalanx of the hallux | |
| Ivory epiphysis of the distal phalanx of the hallux | |
| Pseudoepiphysis of the distal phalanx of the hallux | |
| Small epiphysis of the distal phalanx of the hallux | |
| Stippling of the epiphysis of the distal phalanx of the hallux | |
| Triangular epiphysis of the distal phalanx of the hallux | |
| Absent epiphysis of the 1st metatarsal | |
| Bracket epiphysis of the 1st metatarsal | |
| Cone-shaped epiphysis of the 1st metatarsal | |
| Enlarged epiphysis of the 1st metatarsal | |
| Fragmentation of the epiphysis of the 1st metatarsal | |
| Irregular epiphysis of the 1st metatarsal | |
| Ivory epiphysis of the 1st metatarsal | |
| Pseudoepiphysis of the 1st metatarsal | |
| Small epiphysis of the 1st metatarsal | |
| Stippling of the epiphysis of the 1st metatarsal | |
| Triangular epiphysis of the 1st metatarsal | |
| Abnormality of the epiphyses of the toes | |
| Abnormality of the phalanges of the toes | |
| Absent epiphyses of the toes | |
| Bracket epiphyses of the toes | |
| Cone-shaped epiphyses of the toes | |
| Enlarged epiphyses of the toes | |
| Fragmentation of the epiphyses of the toes | |
| Irregular epiphyses of the toes | |
| Ivory epiphyses of the toes | |
| Pseudoepiphyses of the toes | |
| Small epiphyses of the toes | |
| Epiphyseal stippling of toe phalanges | |
| Triangular epiphyses of the toes | |
| Aplasia/Hypoplasia of the phalanges of the toes | |
| Broad phalanx of the toes | |
| Bullet-shaped toe phalanx | |
| Curved toe phalanx | |
| Osteolytic defects of the phalanges of the toes | |
| Patchy sclerosis of toe phalanx | |
| Symphalangism affecting the phalanges of the toes | |
| Triangular shaped phalanges of the toes | |
| Duplication of phalanx of toe | |
| Abnormality of the distal phalanges of the toes | |
| Abnormality of the middle phalanges of the toes | |
| Abnormality of toe proximal phalanx | |
| Aplasia/Hypoplasia of the distal phalanges of the toes | |
| Broad distal phalanx of the toes | |
| Bullet-shaped distal toe phalanx | |
| Curved distal toe phalanx | |
| Osteolytic defects of the distal phalanges of the toes | |
| Patchy sclerosis of distal toe phalanx | |
| Symphalangism affecting the distal phalanges of the toes | |
| Triangular shaped distal phalanges of the toes | |
| Duplication of distal phalanx of toe | |
| Aplasia/Hypoplasia of the middle phalanges of the toes | |
| Broad middle phalanges of the toes | |
| Bullet-shaped middle toe phalanx | |
| Curved middle toe phalanx | |
| Osteolytic defects of the middle phalanges of the toes | |
| Patchy sclerosis of middle toe phalanx | |
| Symphalangism affecting the middle phalanges of the toes | |
| Triangular shaped middle phalanges of the toes | |
| Duplication of middle phalanx of toe | |
| Aplasia/hypoplasia of proximal toe phalanx | |
| Broad proximal phalanx of toe | |
| Bullet-shaped proximal toe phalanx | |
| Curved proximal toe phalanx | |
| Osteolytic defect of the proximal toe phalanx | |
| Patchy sclerosis of proximal toe phalanx | |
| Symphalangism affecting the proximal phalanges of the toes | |
| Triangular shaped proximal phalanges of the toes | |
| Duplication of proximal phalanx of toe | |
| Flexion contracture of the hallux | |
| Contracture of the tarsometatarsal joint of the hallux | |
| Contracture of the interphalangeal joint of the hallux | |
| Contractures of the metatarsophalangeal joint of the hallux | |
| Structural foot deformity | |
| Abnormality of the epiphysis of the 2nd metacarpal | |
| Pseudoepiphysis of the 2nd metacarpal | |
| Abnormality of the epiphysis of the 3rd metacarpal | |
| Pseudoepiphysis of the 3rd metacarpal | |
| Abnormality of the epiphysis of the 4th metacarpal | |
| Pseudoepiphysis of the 4th metacarpal | |
| Abnormality of the epiphysis of the 5th metacarpal | |
| Pseudoepiphysis of the 5th metacarpal | |
| Absent epiphyses of the phalanges of the hand | |
| Bracket epiphyses of the phalanges of the hand | |
| Cone-shaped epiphyses of the phalanges of the hand | |
| Enlarged epiphyses of the phalanges of the hand | |
| Fragmentation of the epiphyses of the phalanges of the hand | |
| Irregular epiphyses of the phalanges of the hand | |
| Ivory epiphyses of the phalanges of the hand | |
| Pseudoepiphyses of the phalanges of the hand | |
| Small epiphyses of the phalanges of the hand | |
| Epiphyseal stippling of finger phalanges | |
| Triangular epiphyses of the phalanges of the hand | |
| Aplasia of the middle phalanx of the hand | |
| Short proximal phalanx of finger | |
| Aplasia of the proximal phalanges of the hand | |
| Abnormality of the epiphyses of the distal phalanx of finger | |
| Abnormality of the epiphyses of the middle phalanges of the hand | |
| Abnormality of the epiphyses of the proximal phalanges of the hand | |
| Absent epiphyses of the distal phalanges of the hand | |
| Bracket epiphyses of the distal phalanges of the hand | |
| Cone-shaped epiphyses of the distal phalanges of the hand | |
| Enlarged epiphyses of the distal phalanges of the hand | |
| Fragmentation of the epiphyses of the distal phalanges of the hand | |
| Irregular epiphyses of the distal phalanges of the hand | |
| Ivory epiphyses of the distal phalanges of the hand | |
| Pseudoepiphyses of the distal phalanges of the hand | |
| Small epiphyses of the distal phalanges of the hand | |
| Stippling of the epiphyses of the distal phalanges of the hand | |
| Triangular epiphyses of the distal phalanges of the hand | |
| Absent epiphyses of the middle phalanges of the hand | |
| Bracket epiphyses of the middle phalanges of the hand | |
| Cone-shaped epiphyses of the middle phalanges of the hand | |
| Enlarged epiphyses of the middle phalanges of the hand | |
| Fragmentation of the epiphyses of the middle phalanges of the hand | |
| Irregular epiphyses of the middle phalanges of the hand | |
| Ivory epiphyses of the middle phalanges of the hand | |
| Pseudoepiphyses of the middle phalanges of the hand | |
| Small epiphyses of the middle phalanges of the hand | |
| Stippling of the epiphyses of the middle phalanges of the hand | |
| Triangular epiphyses of the middle phalanges of the hand | |
| Absent epiphyses of the proximal phalanges of the hand | |
| Bracket epiphyses of the proximal phalanges of the hand | |
| Cone-shaped epiphyses of the proximal phalanges of the hand | |
| Enlarged epiphyses of the proximal phalanges of the hand | |
| Fragmentation of the epiphyses of the proximal phalanges of the hand | |
| Irregular epiphyses of the proximal phalanges of the hand | |
| Ivory epiphyses of the proximal phalanges of the hand | |
| Pseudoepiphyses of the proximal phalanges of the hand | |
| Small epiphyses of the proximal phalanges of the hand | |
| Stippling of the epiphyses of the proximal phalanges of the hand | |
| Triangular epiphyses of the proximal phalanges of the hand | |
| Stomatitis | |
| Cleft lower lip | |
| Thin lower lip vermilion | |
| Intra-oral hyperpigmentation | |
| Oral synechia | |
| Abnormality of the salivary glands | |
| Abnormality of the submandibular glands | |
| Abnormality of the sublingual glands | |
| Alveolar ridge cleft | |
| Short hard palate | |
| Prominent palatine ridges | |
| Absent uvula | |
| Aplasia/Hypoplasia of the uvula | |
| Palate fistula | |
| Aplasia/Hypoplasia of the tongue | |
| Ankyloglossia | |
| Bifid tongue | |
| Smooth tongue | |
| Abnormality of dentin | |
| Abnormally low-pitched voice | |
| Spinal dysraphism | |
| Spinal cord tumor | |
| Abnormality of the spinal meninges | |
| Spinal meningeal diverticulum | |
| Absence of the sacrum | |
| Short thorax | |
| Stridor | |
| Asternia | |
| Bifid sternum | |
| Chylothorax | |
| Aplasia/Hypoplasia of the breasts | |
| Asymmetry of the breasts | |
| Breast hypertrophy | |
| Premature thelarche | |
| Aplasia/Hypoplasia of the diaphragm | |
| Ebstein's anomaly of the tricuspid valve | |
| Scapular aplasia | |
| Aplasia/Hypoplasia of the abdominal wall musculature | |
| Abnormality of the 2nd toe | |
| Abnormality of the 3rd toe | |
| Abnormality of the 4th toe | |
| Abnormality of the 5th toe | |
| Abnormality of the epiphyses of the 2nd toe | |
| Abnormality of phalanx of the 2nd toe | |
| Aplasia/Hypoplasia of the 2nd toe | |
| Deviation of the 2nd toe | |
| Flexion contracture of the 2nd toe | |
| Polydactyly affecting the 2nd toe | |
| Abnormality of the epiphyses of the 3rd toe | |
| Abnormality of the phalanges of the 3rd toe | |
| Aplasia/Hypoplasia of the 3rd toe | |
| Deviation of the 3rd toe | |
| Flexion contracture of 3rd toe | |
| Polydactyly affecting the 3rd toe | |
| Abnormality of the epiphyses of the 4th toe | |
| Abnormality of the phalanges of the 4th toe | |
| Aplasia/Hypoplasia of the 4th toe | |
| Deviation of the 4th toe | |
| Flexion contracture of the 4th toe | |
| Polydactyly affecting the 4th toe | |
| Abnormality of the epiphyses of the 5th toe | |
| Abnormality of the phalanges of the 5th toe | |
| Aplasia/Hypoplasia of the 5th toe | |
| Deviation of the 5th toe | |
| Flexion contracture of the 5th toe | |
| Aplasia/Hypoplasia of the phalanges of the 2nd toe | |
| Broad phalanges of the 2nd toe | |
| Bullet-shaped 2nd toe phalanx | |
| Curved 2nd toe phalanx | |
| Osteolytic defects of the phalanges of the 2nd toe | |
| Patchy sclerosis of 2nd toe phalanx | |
| Symphalangism affecting the phalanges of the 2nd toe | |
| Triangular shaped phalanges of the 2nd toe | |
| Duplication of the phalanges of the 2nd toe | |
| Abnormality of the distal phalanx of the 2nd toe | |
| Abnormality of the middle phalanx of the 2nd toe | |
| Abnormality of the proximal phalanx of the 2nd toe | |
| Aplasia/Hypoplasia of the phalanges of the 3rd toe | |
| Broad phalanges of the 3rd toe | |
| Bullet-shaped 3rd toe phalanx | |
| Curved 3rd toe phalanx | |
| Osteolytic defects of the phalanges of the 3rd toe | |
| Patchy sclerosis of 3rd toe phalanx | |
| Symphalangism affecting the phalanges of the 3rd toe | |
| Triangular shaped phalanges of the 3rd toe | |
| Duplication of phalanx of the 3rd toe | |
| Abnormality of the distal phalanx of the 3rd toe | |
| Abnormality of the middle phalanx of the 3rd toe | |
| Abnormality of the proximal phalanx of the 3rd toe | |
| Aplasia/Hypoplasia of the phalanges of the 4th toe | |
| Broad phalanges of the 4th toe | |
| Bullet-shaped 4th toe phalanx | |
| Curved 4th toe phalanx | |
| Osteolytic defects of the phalanges of the 4th toe | |
| Patchy sclerosis of 4th toe phalanx | |
| Symphalangism affecting the phalanges of the 4th toe | |
| Triangular shaped phalanges of the 4th toe | |
| Duplication of phalanx of the 4th toe | |
| Abnormality of the distal phalanx of the 4th toe | |
| Abnormality of the middle phalanx of the 4th toe | |
| Abnormality of the proximal phalanx of the 4th toe | |
| Aplasia/Hypoplasia of the phalanges of the 5th toe | |
| Broad phalanges of the 5th toe | |
| Bullet-shaped 5th toe phalanx | |
| Curved 5th toe phalanx | |
| Osteolytic defects of the phalanges of the 5th toe | |
| Patchy sclerosis of 5th toe phalanx | |
| Symphalangism affecting the phalanges of the 5th toe | |
| Triangular shaped phalanges of the 5th toe | |
| Duplication of the phalanges of the 5th toe | |
| Abnormality of the distal phalanx of the 5th toe | |
| Abnormality of the middle phalanx of the 5th toe | |
| Abnormality of the proximal phalanx of the 5th toe | |
| Aplasia/hypoplasia of the proximal phalanx of the 2nd toe | |
| Broad proximal phalanx of the 2nd toe | |
| Bullet-shaped proximal phalanx of the 2nd toe | |
| Curved proximal phalanx of the 2nd toe | |
| Osteolytic defects of the proximal phalanx of the 2nd toe | |
| Patchy sclerosis of the proximal phalanx of the 2nd toe | |
| Symphalangism affecting the proximal phalanx of the 2nd toe | |
| Triangular shaped proximal phalanx of the 2nd toe | |
| Duplication of the proximal phalanx of the 2nd toe | |
| Aplasia/Hypoplasia of the middle phalanx of the 2nd toe | |
| Broad middle phalanx of the 2nd toe | |
| Bullet-shaped middle phalanx of the 2nd toe | |
| Curved middle phalanx of the 2nd toe | |
| Osteolytic defects of the middle phalanx of the 2nd toe | |
| Patchy sclerosis of the middle phalanx of the 2nd toe | |
| Symphalangism affecting the middle phalanx of the 2nd toe | |
| Triangular shaped middle phalanx of the 2nd toe | |
| Duplication of the middle phalanx of the 2nd toe | |
| Aplasia/Hypoplasia of the distal phalanx of the 2nd toe | |
| Broad distal phalanx of the 2nd toe | |
| Bullet-shaped distal phalanx of the 2nd toe | |
| Curved distal phalanx of the 2nd toe | |
| Osteolytic defects of the distal phalanx of the 2nd toe | |
| Patchy sclerosis of the distal phalanx of the 2nd toe | |
| Symphalangism affecting the distal phalanx of the 2nd toe | |
| Triangular shaped distal phalanx of the 2nd toe | |
| Duplication of the distal phalanx of the 2nd toe | |
| Complete duplication of the proximal phalanx of the 2nd toe | |
| Partial duplication of the proximal phalanx of the 2nd toe | |
| Complete duplication of the distal phalanx of the 2nd toe | |
| Partial duplication of the distal phalanx of the 2nd toe | |
| Complete duplication of the middle phalanx of the 2nd toe | |
| Partial duplication of the middle phalanx of the 2nd toe | |
| Partial duplication of phalanx of the 2nd toe | |
| Complete duplication of the phalanges of the 2nd toe | |
| Aplasia of the phalanges of the 2nd toe | |
| Short phalanx of the 2nd toe | |
| Absent distal phalanx of the 2nd toe | |
| Short distal phalanx of the 2nd toe | |
| Aplasia of the middle phalanx of the 2nd toe | |
| Short middle phalanx of the 2nd toe | |
| Aplasia of the proximal phalanx of the 2nd toe | |
| Short proximal phalanx of the 2nd toe | |
| Abnormality of the ventricular septum | |
| Ectopic accesory toe-like appendage | |
| Ectopic accesory finger-like appendage | |
| Polydactyly | |
| Bifid femur | |
| Pulmonary insufficiency | |
| Primum atrial septal defect | |
| Tricuspid stenosis | |
| Anal fistula | |
| Colonic atresia | |
| Esophageal stenosis | |
| Aplasia/Hypoplasia of the spleen | |
| Ectopia of the spleen | |
| Pelvic asymmetry | |
| Acetabular spurs | |
| Steep acetabular roof | |
| Abnormality of the greater sacrosciatic notch | |
| Widening of the sacrosciatic notch | |
| Female pseudohermaphroditism | |
| True hermaphroditism | |
| Abnormality of the female genitalia | |
| Abnormality of the male genitalia | |
| Aplasia/Hypoplasia of the ovary | |
| Aplasia of the ovary | |
| Streak ovary | |
| Precocious puberty in females | |
| Aplasia/Hypoplasia of the testes | |
| Aplasia of the testes | |
| Supernumerary testes | |
| Oligosacchariduria | |
| Abnormality of the heme biosynthetic pathway | |
| Porphyrinuria | |
| Bladder stones | |
| Cloacal exstrophy | |
| Aplasia/Hypoplasia of the bladder | |
| Aplasia of the bladder | |
| Abnormality of the urachus | |
| Patent urachus | |
| Urethral fistula | |
| Urethral valve | |
| Acromelia of the upper limbs | |
| Amniotic constriction rings of arms | |
| Hypertrophy of the upper limb | |
| Hyperextensibility at elbow | |
| Abnormality of the hypothenar eminence | |
| Small hypothenar eminence | |
| Aplasia/Hypoplasia of the palmar creases | |
| Absent palmar crease | |
| Abnormality of the palmar creases | |
| Digital constriction ring | |
| Osseous finger syndactyly | |
| Long metacarpals | |
| Acromelia of the lower limbs | |
| Amniotic constriction rings of legs | |
| Hypertrophy of the lower limb | |
| Sirenomelia | |
| Bipartite patella | |
| Patellar subluxation | |
| Hyperextensibility of the knee | |
| Limitation of knee mobility | |
| Fibular bowing | |
| Fibular duplication | |
| Increased length of the tibia | |
| Limitation of movement at ankles | |
| Abnormal plantar dermatoglyphics | |
| Foot asymmetry | |
| Metatarsus valgus | |
| Aplasia of the tarsal bones | |
| Hypermobility of toe joints | |
| Long toe | |
| Adrenal calcification | |
| Pituitary calcification | |
| Hyperpituitarism | |
| Aplasia/Hypoplasia of the thymus | |
| Thymus hyperplasia | |
| Ectopic thymus tissue | |
| Thyroglossal cyst | |
| Increased fetal movement | |
| Gait apraxia | |
| Dyslexia | |
| Alexia | |
| Agnosia | |
| Finger agnosia | |
| Dysgraphia | |
| Astereognosia | |
| Prosopagnosia | |
| Echolalia | |
| Palatal myoclonus | |
| Spinal myoclonus | |
| Paroxysmal vertigo | |
| Spasmus nutans | |
| Transient global amnesia | |
| Sleep apnea | |
| Central sleep apnea | |
| Wide cranial sutures | |
| Small sella turcica | |
| Thin calvarium | |
| Advanced pneumatization of cranial sinuses | |
| Cutis gyrata of scalp | |
| Vestibular nystagmus | |
| Opsoclonus | |
| Vertical nystagmus | |
| Downbeat nystagmus | |
| Muscle fibrillation | |
| Muscle flaccidity | |
| Percussion myotonia | |
| Paralysis due to lesions of the principle motor tracts | |
| Paraplegia | |
| Paraplegia/paraparesis | |
| Oculogyric crisis | |
| Cutaneous finger syndactyly | |
| Overlapping fingers | |
| Abnormality of the clivus | |
| Vertical clivus | |
| Undulate clavicles | |
| Undulate ribs | |
| Keloids | |
| Bifid epiglottis | |
| Aplasia/Hypoplasia of the Epiglottis | |
| Hamartoma | |
| Y-shaped metatarsals | |
| Hamartoma of the eye | |
| Elevated 7-dehydrocholesterol | |
| Low maternal serum alpha-fetoprotein | |
| Elevated levels of phytanic acid | |
| Abnormality of the epiphysis of the femoral head | |
| Dysplasia of the femoral head | |
| Intracranial cystic lesion | |
| Absent epiphyses | |
| Bracket epiphyses | |
| Cone-shaped epiphysis | |
| Enlarged epiphyses | |
| Irregular epiphyses | |
| Ivory epiphyses | |
| Pseudoepiphyses | |
| Small epiphyses | |
| Triangular epiphyses | |
| Premature epimetaphyseal fusion | |
| Abnormality of the distal femoral epiphysis | |
| Abnormality of the proximal tibial epiphysis | |
| Abnormality of the distal tibial epiphysis | |
| Abnormality of fibular epiphyses | |
| Abnormality of the proximal fibular epiphysis | |
| Abnormality of the distal fibular epiphysis | |
| Abnormality of the proximal radial epiphysis | |
| Abnormality of the distal radial epiphysis | |
| Abnormality of the proximal humeral epiphysis | |
| Abnormality of the distal humeral epiphysis | |
| Abnormality of the distal ulnar epiphysis | |
| Abnormality of the proximal ulnar epiphysis | |
| Type 2 muscle fiber predominance | |
| Keratocystic odontogenic tumor | |
| Cyst of the eyelid | |
| Chalazion | |
| Hordeolum | |
| Hordeolum externum | |
| Hordeolum internum | |
| Skin tags | |
| Palmar pits | |
| Plantar pits | |
| Fibroma | |
| Angiofibromas | |
| Lung fibroma | |
| Cardiac fibroma | |
| Ovarian fibroma | |
| Fibroma of the breast | |
| Malar prominence | |
| Cutaneous syndactyly of toes | |
| Neoplasm of the skeletal system | |
| Aplastic/hypoplastic toenail | |
| Anterior pituitary dysgenesis | |
| Anterior pituitary agenesis | |
| Anterior pituitary hypoplasia | |
| Facial palsy | |
| Abnormality of the cortex of the humerus | |
| Abnormality of metatarsal epiphysis | |
| Abnormality of the epiphyses of the feet | |
| Total anosmia | |
| Partial anosmia | |
| Total hyposmia | |
| Partial hyposmia | |
| Schizencephaly | |
| Conjunctival amyloidosis | |
| Elevated alkaline phosphatase of hepatic origin | |
| Elevated alkaline phosphatase of bone origin | |
| Abnormality of the nasal cavity | |
| Abnormality of the midnasal cavity | |
| Midnasal atresia | |
| Midnasal stenosis | |
| Aplasia of the distal phalanges of the toes | |
| Cervical spine instability | |
| Abnormal elasticity of skin | |
| Dermal translucency | |
| Flat nasal alae | |
| Premaxillary underdevelopment | |
| Abnormality of the meninges | |
| Abnormality of the dura mater | |
| Abnormality of the falx cerebri | |
| Aplasia of the falx cerebri | |
| Epiphyseal stippling | |
| Abnormal epiphyseal ossification | |
| Patchy reduction of bone mineral density | |
| Patchy changes of bone mineral density | |
| Patchy variation in bone mineral density | |
| Abnormal hand bone ossification | |
| Absence of the third cerebral ventricle | |
| Abnormality of the diencephalon | |
| Abnormality of thalamus morphology | |
| Fusion of the left and right thalami | |
| Bilateral coxa valga | |
| Hypoplasia of the anterior nasal spine | |
| Aplasia of the maxilla | |
| Abnormality of the zygomatic bone | |
| Cheekbone underdevelopment | |
| Abnormality of the third metatarsal bone | |
| Abnormality of the curvature of the vertebral column | |
| Abnormal foot bone ossification | |
| Mechanical ileus | |
| Enuresis nocturna | |
| Enuresis diurna | |
| Elevated tissue non-specific alkaline phosphatase | |
| Elevated alkaline phosphatase of renal origin | |
| Elevated intestinal alkaline phosphatase | |
| Elevated placental alkaline phosphatase | |
| Low tissue non-specific alkaline phosphatase | |
| Low alkaline phosphatase of bone origin | |
| Low alkaline phosphatase of renal origin | |
| Low alkaline phosphatase of hepatic origin | |
| Low intestinal alkaline phosphatase | |
| Low placental alkaline phosphatase | |
| Mirror image polydactyly | |
| Mirror image hand polydactyly | |
| Mirror image foot polydactyly | |
| 2-5 finger syndactyly | |
| Pulverulent Cataract | |
| Lamellar pulverulent cataract | |
| Sutural cataract | |
| Polar cataract | |
| Anterior pyramidal cataract | |
| Nuclear pulverulent cataract | |
| Triangular nuclear cataract | |
| Total cataract | |
| Abnormal immunoglobulin level | |
| Hypergammaglobulinemia | |
| 1-2 finger syndactyly | |
| 4-5 finger syndactyly | |
| 1-3 finger syndactyly | |
| 1-4 finger syndactyly | |
| 1-5 finger syndactyly | |
| 2-4 finger syndactyly | |
| 3-5 finger syndactyly | |
| 1-2 toe syndactyly | |
| 1-4 toe syndactyly | |
| 1-5 toe syndactyly | |
| 2-4 toe syndactyly | |
| 2-5 toe syndactyly | |
| 3-5 toe syndactyly | |
| Osseous syndactyly of toes | |
| Abnormality of hair texture | |
| Abnormal hair pattern | |
| Abnormal hair whorl | |
| Asymmetry of the ears | |
| Cystic lesions of the pinnae | |
| Advanced pneumatization of the mastoid process | |
| Prominent corneal nerve fibers | |
| Spontaneous rupture of the globe | |
| Aplasia of the retina | |
| Cherry red spot of the macula | |
| Double eyebrow | |
| Extension of eyebrows towards upper eyelid | |
| Nodular changes affecting the eyelids | |
| Naevus flammeus of the eyelid | |
| Fibrous dysplasia of the bones | |
| Polyostotic fibrous dysplasia | |
| Monostotic fibrous dysplasia | |
| Osteopoikilosis | |
| Osteopathia striata | |
| Edema of the lower limbs | |
| Edema of the upper limbs | |
| Short metatarsal | |
| Absent metatarsal bone | |
| Aplasia of the phalanges of the toes | |
| Hypoplasia of the phalanges of the toes | |
| Medial flaring of the eyebrow | |
| Ectopic lacrimal punctum | |
| Blepharochalasis | |
| Dermatochalasis | |
| Chin dimple | |
| Cleft mandible | |
| Midline defect of mandible | |
| Abnormality of the temporomandibular joint | |
| Asymmetry of the maxilla | |
| Aplasia/Hypoplasia of the premaxilla | |
| Aplasia of the premaxilla | |
| Abnormality of the premaxilla | |
| Premaxillary Prominence | |
| Absent toe | |
| Broad columella | |
| Chordoma | |
| Low insertion of columella | |
| Short eyelashes | |
| Palmar hyperkeratosis | |
| Ectopic calcification | |
| Sacrococcygeal pilonidal abnormality | |
| Pilonidal sinus | |
| Pilonidal fistula | |
| Pilonidal abscess | |
| Anomalous pulmonary venous return | |
| Partial anomalous pulmonary venous return | |
| Cor triatriatrum | |
| Vascular ring | |
| Tracheobronchmegaly | |
| Bronchomegaly | |
| Tracheomegaly | |
| Large pelvis | |
| Hyperacusis | |
| Skin dimples | |
| Shoulder dimples | |
| Erythema | |
| Uterine neoplasm | |
| Gonadal neoplasm | |
| Urinary tract neoplasm | |
| Genital neoplasm | |
| Testicular neoplasm | |
| Abnormality of the Leydig cells | |
| Hyoplasia of the Leydig cells | |
| Hyperplasia of the Leydig cells | |
| Bifid nail | |
| Impaired visuospatial constructive cognition | |
| Cerebellar glioma | |
| Brainstem glioma | |
| Hemangioblastoma | |
| Lip freckle | |
| Pinealoma | |
| Absent cupid's bow | |
| Underdeveloped nasolabial fold | |
| Perioral hyperpigmentation | |
| Everted upper lip vermilion | |
| Tented upper lip vermilion | |
| Upturned corners of mouth | |
| U-Shaped upper lip vermilion | |
| Open bite | |
| Protruding tongue | |
| Broad uvula | |
| Long uvula | |
| Narrow uvula | |
| Short uvula | |
| Abnormal number of hair whorls | |
| Abnormal position of hair whorl | |
| Nevus sebaceous | |
| Epidermal nevus | |
| Linear nevus sebaceous | |
| Generalized tonic seizures | |
| Atonic seizures | |
| Dacrystic seizures | |
| Gelastic seizures | |
| Scintillating scotoma | |
| Ridged cranial sutures | |
| Abnormality of the fifth cranial nerve | |
| Abnormality of the eleventh cranial nerve | |
| Abnormality of the twelfth cranial nerve | |
| Abnormality of the seventh cranial nerve | |
| Hemifacial spasm | |
| Impaired temperature sensation | |
| Impaired tactile sensation | |
| Impaired proprioception | |
| Abnormality of pain sensation | |
| Spontaneous pain sensation | |
| Trophic changes related to pain | |
| Dissociated sensory loss | |
| Abnormality of copper homeostasis | |
| Decreased serum ceruloplasmin | |
| High nonceruloplasmin-bound serum copper | |
| Increased urinary copper concentration | |
| Multifocal epileptiform discharges | |
| EEG with focal slow activity | |
| EEG with multifocal slow activity | |
| EEG with generalized slow activity | |
| EEG with persistent abnormal rhythmic activity | |
| EEG with spike-wave complexes (<2.5 Hz) | |
| EEG with spike-wave complexes (2.5-3.5 Hz) | |
| EEG with spike-wave complexes (>3.5 Hz) | |
| EEG with spike-wave complexes | |
| EEG with burst suppression | |
| EEG with photoparoxysmal response | |
| EEG with periodic lateralized epileptiform discharges | |
| EEG with generalized low amplitude activity | |
| EEG with localized low amplitude activity | |
| EEG with periodic complexes | |
| EEG with periodic abnormalities | |
| EEG with hyperventilation-induced epileptiform discharges | |
| Frank breech presentation | |
| Complete breech presentation | |
| Incomplete breech presentation | |
| Delayed fine motor development | |
| Receptive language delay | |
| Intellectual disability, severe | |
| Oppositional defiant disorder | |
| Abdominal wall defect | |
| Dyssynergia | |
| Ocular dyssynergia | |
| Asynergia | |
| Sensory ataxia | |
| EKG | |
| Cervical spinal cord atrophy | |
| Tendon xanthomatosis | |
| Chaddock reflex | |
| Abnormality of circulating protein level | |
| Unilateral strabismus | |
| Fetal cystic hygroma | |
| Postnatal cystic hygroma | |
| Increased nuchal translucency | |
| Abnormality of the umbilical cord | |
| Pulmonary valve atresia | |
| Aortic valve atresia | |
| Acromelia | |
| Aseptic necrosis | |
| Osteochondrosis dissecans | |
| Morbus Koehler | |
| Morbus Kienboeck | |
| Morbus Osgood-Schlatter | |
| Morbus Scheuermann | |
| Abnormality of branched chain family amino acid metabolism | |
| Abnormality of phenylalanine metabolism | |
| Abnormality of serine family amino acid metabolism | |
| Abnormality of glycine metabolism | |
| Hypersarcosinemia | |
| Hypersarcosinuria | |
| Abnormality of sarcosine metabolism | |
| Abnormality of aspartate family amino acid metabolism | |
| Abnormality of threonine metabolism | |
| Abnormality of methionine metabolism | |
| Abnormality of glutamine family amino acid metabolism | |
| Abnormality of glutamine metabolism | |
| Abnormality of histidine metabolism | |
| obsolete Abnormality of histidine metabolism | |
| Hyperhistidinemia | |
| Abnormality of proline metabolism | |
| Abnormality of lysine metabolism | |
| Abnormality of arginine metabolism | |
| Hypervalinemia | |
| Hyperleucinemia | |
| Abnormality of isoleucine metabolism | |
| Hyperisoleucinemia | |
| Abnormality of valine metabolism | |
| Abnormality of pyruvate family amino acid metabolism | |
| Abnormality of alanine metabolism | |
| Abnormality of tyrosine metabolism | |
| Abnormality of cysteine metabolism | |
| Abnormality of homocysteine metabolism | |
| Zonular cataract | |
| Coralliform cataract | |
| Membranous cataract | |
| Anterior subcapsular cataract | |
| Posterior cortical cataract | |
| Nuclear punctate cataract | |
| Aculeiform cataract | |
| Abnormality of divalent inorganic cation homeostasis | |
| Abnormality of orotic acid metabolism | |
| Abnormality of cation homeostasis | |
| Abnormality of monovalent inorganic cation homeostasis | |
| Abnormality of sodium homeostasis | |
| Abnormality of nucleobase metabolism | |
| Abnormality of xanthine metabolism | |
| Xanthinuria | |
| Abnormality of the upper urinary tract | |
| Abnormality of the lower urinary tract | |
| Abnormality of the nasal skeleton | |
| Abnormality of the external nose | |
| Abnormality of the nasal bone | |
| Aplasia/Hypoplasia of the nasal bone | |
| Aplasia of the nasal bone | |
| Echogenic intracardiac focus | |
| Echogenic fetal bowel | |
| Abnormality of the renal pelvis | |
| Fetal pyelectasis | |
| Dilatation of the renal pelvis | |
| Abnormality of ductus venosus blood flow | |
| Abnormality of the fetal cardiovascular system | |
| Abnormality of umbilical vein blood flow | |
| Abnormality of the fourth ventricle | |
| Abnormality of the third ventricle | |
| Mild fetal ventriculomegaly | |
| Noncommunicating hydrocephalus | |
| Hypoplastic right heart | |
| Dilatation of the bladder | |
| Fetal megacystis | |
| Congenital posterior urethral valve | |
| Bilateral renal agenesis | |
| Congenital cystic adenomatoid malformation of the lung | |
| Bronchopulmonary sequestration | |
| Intralobar sequestration | |
| Extralobar sequestration | |
| Absence of stomach bubble on fetal sonography | |
| Abnormality of long-chain fatty-acid metabolism | |
| Abnormality of phytanic acid metabolism | |
| Abnormality of fatty-acid anion metabolism | |
| Abnormality of carnitine metabolism | |
| Abnormality of liposaccharide metabolism | |
| Abnormality of glycolipid metabolism | |
| Blood group antigen abnormality | |
| Absence of Lutheran antigen on erythrocytes | |
| Anemia of inadequate production | |
| Abnormality of myeloid leukocytes | |
| Abnormality of B cell number | |
| B lymphocytopenia | |
| Abnormality of phagocytes | |
| Abnormality of immune system physiology | |
| Abnormality of the level of lipoprotein cholesterol | |
| Hyperlipoproteinemia | |
| Hypolipoproteinemia | |
| Polygenic inheritance | |
| Oligogenic inheritance | |
| Digenic inheritance | |
| Gonosomal inheritance | |
| Abnormality of cellular immune system | |
| Abnormality of the extrinsic pathway | |
| Abnormality of the intrinsic pathway | |
| Abnormality of the common coagulation pathway | |
| Abnormality of the abdominal musculature | |
| Stress urinary incontinence | |
| Abnormality of the cerebral subcortex | |
| Abnormality of the striatum | |
| Abnormality of dicarboxylic acid metabolism | |
| Abnormality of monocarboxylic acid metabolism | |
| Chromosomal breakage induced by ionizing radiation | |
| Increased susceptibility to spontaneous sister chromatid exchange | |
| Aplasia of the optic tract | |
| Aplasia/Hypoplasia of the optic tract | |
| Increased bone mineral density | |
| Osteopetrosis | |
| Severe Myopia | |
| Abnormality of the systemic arterial tree | |
| Mixed cirrhosis | |
| Abnormality of the musculature of the neck | |
| Termporal pattern | |
| Acute | |
| Chronic | |
| Subacute | |
| Abnormality of polysaccharide metabolism | |
| Abnormality of carbohydrate metabolism/homeostasis | |
| Abnormal glucose homeostasis | |
| Abnormality of blood glucose concentration | |
| Abnormality of urine glucose concentration | |
| Abnormality of cell physiology | |
| Abnormality of the cell cycle | |
| Abnormality of chromosome condensation | |
| Abnormality of mucopolysaccharide metabolism | |
| Abnormality of circulating enzyme level | |
| Abnormality of unsaturated fatty acid metabolism | |
| Abnormality of prostaglandin metabolism | |
| Abnormality of the gastrointestinal tract | |
| Abnormality of cardiovascular system physiology | |
| Aplasia/Hypoplasia of the vagina | |
| Abnormality of the fallopian tube | |
| Abnormality of blood circulation | |
| Internal hemorrhage | |
| Abnormality of transition element cation homeostasis | |
| Abnormality of iron homeostasis | |
| Abnormality of fluid regulation | |
| Impairment of fructose metabolism | |
| Amyloidosis | |
| Abnormality of the renal cortex | |
| Abnormality of renal excretion | |
| Decreased urine output | |
| Abnormality of renal resorption | |
| Abnormality of the helix | |
| Abnormality of the intrahepatic bile duct | |
| Aplasia/Hypoplasia of the cervical spine | |
| Abnormality of potassium homeostasis | |
| Abnormality of circulating adrenocorticotropin level | |
| Abnormal number of permanent teeth | |
| Agenesis of permanent maxillary central incisor | |
| Agenesis of primary maxillary central incisor | |
| Agenesis of primary mandibular central incisor | |
| Agenesis of permanent mandibular central incisor | |
| Agenesis of primary maxillary lateral incisor | |
| Agenesis of permanent maxillary lateral incisor | |
| Agenesis of premolar | |
| Agenesis of maxillary premolar | |
| Agenesis of mandibular premolar | |
| Agenesis of molar | |
| Agenesis of permanent molar | |
| Agenesis of first permanent molar tooth | |
| Agenesis of second permanent molar | |
| Generalized periodontitis | |
| Localized periodontitis | |
| Dentinogenesis imperfecta limited to primary teeth | |
| Abnormality of dental structure | |
| Misalignment of incisors | |
| Abnormality of incisor morphology | |
| Abnormal number of incisors | |
| Conical incisor | |
| Mesiodens | |
| Odontoma | |
| Increased number of teeth | |
| Abnormality of molar morphology | |
| Abnormality of permanent molar morphology | |
| Rootless teeth | |
| Abnormality of dental color | |
| Localized hypoplasia of dental enamel | |
| Green teeth | |
| Abnormality of premolar | |
| Abnormality of molar | |
| Abnormality of canine | |
| Impacted tooth | |
| Abnormality of premolar morphology | |
| Incisor macrodontia | |
| Conical primary incisor | |
| Conical maxillary incisor | |
| Hypocalcification of dental enamel | |
| Hypomature dental enamel | |
| Dentinogenesis imperfecta of primary and permanent teeth | |
| Talon cusp | |
| Dens in dente | |
| Double tooth | |
| Fused teeth | |
| Gemination | |
| Mulberry molar | |
| Molarization of premolar | |
| Overbite | |
| Overjet | |
| Peripheral demyelination | |
| Epileptic spasms | |
| Speech apraxia | |
| Spastic hemiplegia | |
| Intestinal atresia | |
| Ileal atresia | |
| Abnormality of the left ventricular outflow tract | |
| Abnormality of blood volume homeostasis | |
| Hypervolemia | |
| Hypovolemia | |
| Recurrent aphthous stomatitis | |
| Recurrent sinusitis | |
| Chronic sinusitis | |
| Tonsillitis | |
| Abnormality of immune serum protein physiology | |
| Abnormality of serum cytokine level | |
| Abnormality of cytokine secretion | |
| Defective production of NFKB1-dependent cytokines | |
| Abnormality of chemokine secretion | |
| Abnormality of interferon secretion | |
| Abnormality of interleukin secretion | |
| Abnormality of tumor necrosis factor secretion | |
| Abnormality of the nasal dorsum | |
| Concave nasal ridge | |
| Abnormality of skin morphology | |
| Abnormality of skin physiology | |
| Inflammatory abnormality of the skin | |
| Abnormality of epidermal morphology | |
| Abnormality of dermal melanosomes | |
| Nephroptosis | |
| Perioral eczema | |
| Acute esophageal necrosis | |
| Bilateral fetal pyelectasis | |
| Abnormality of renal calyx morphology | |
| Perianal rash | |
| Chronic furunculosis | |
| Increased sensitivity to ionizing radiation | |
| Low-grade fever | |
| Aplasia/Hypoplasia of the sweat glands | |
| Aplasia of the sweat glands | |
| Non-pruritic urticaria | |
| Abnormality of skin adnexa | |
| Gastric duplication | |
| Gastrointestinal duplication | |
| Age-related cataract | |
| Age-related nuclear cataract | |
| Age-related cortical cataract | |
| Age-related posterior subcapsular cataract | |
| Symptomatic seizures | |
| Dialeptic seizures | |
| Typical absence seizures | |
| Absence seizures with special features | |
| Absence seizures with eyelid myoclonia | |
| Myoclonic absences | |
| Obtundation status | |
| Early onset absence seizures | |
| Focal motor seizures | |
| Focal autonomic seizures | |
| Focal autonomic seizures with altered responsiveness | |
| Focal autonomic seizures without altered responsiveness | |
| Auras | |
| Auditory auras | |
| Epigastric auras | |
| Gustatory auras | |
| Olfactory Auras | |
| Psychic auras | |
| Somatosensory auras | |
| Vegetative auras | |
| Visual auras | |
| Focal myoclonic seizures | |
| Focal tonic seizures | |
| Eyelid myoclonias | |
| Generalized clonic seizures | |
| Myoclonic atonic seizures | |
| Simple febrile seizures | |
| Complex febrile seizures | |
| Hypokinetic seizures | |
| Hyperkinetic seizures | |
| Versive seizures | |
| EEG with constitutional variants | |
| EEG with 4-5/second background activity | |
| Alpha-EEG | |
| Beta-EEG | |
| Partial beta-EEG | |
| Low voltage EEG | |
| Epileptiform EEG discharges | |
| EEG with hyperventilation-induced focal epileptiform discharges | |
| EEG with hyperventilation-induced generalized epileptiform discharges | |
| EEG with focal epileptiform discharges | |
| Focal epileptiform discharges with limited propagation to contralateral hemisphere | |
| Focal EEG discharges with propagation to ipsilateral hemisphere | |
| Focal EEG discharges with secondary generalization | |
| Bilateral multifocal epileptiform discharges | |
| Uni- and bilateral multifocal epileptiform discharges | |
| Unilateral multifocal epileptiform discharges | |
| Polymorphic focal epileptiform discharges | |
| EEG with focal spikes | |
| EEG with series of focal spikes | |
| EEG with focal sharp slow waves | |
| EEG with focal sharp waves | |
| EEG with focal spike waves | |
| EEG with generalized epileptiform discharges | |
| EEG with generalized sharp slow waves | |
| EEG with generalized polymorphic epileptiform discharges | |
| EEG with changes in voltage | |
| EEG with diffuse acceleration | |
| EEG with abnormally slow frequencies | |
| EEG with continuous slow activity | |
| EEG with intermittent slow activity | |
| EEG with generalized slow activity grade 1 | |
| EEG with generalized slow activity grade 2 | |
| EEG with generalized slow activity grade 3 | |
| EEG with generalized slow activity grade 4 | |
| EEG with occipital slowing | |
| EEG with photoparoxysmal response grade I | |
| EEG with photoparoxysmal response grade II | |
| EEG with photoparoxysmal response grade III | |
| EEG with photoparoxysmal response grade IV | |
| Hemihypsarrhythmia | |
| Abnormal shape of the occiput | |
| Abnormal shape of the frontal region | |
| Short face | |
| Prominent forehead | |
| Vertical forehead creases | |
| Depressed glabella | |
| Metopic depression | |
| Ablepharon | |
| Epiblepharon | |
| Aplasia/Hypoplasia affecting the eyelid | |
| Elevated C-reactive protein level | |
| Horizontal eyebrow | |
| Broad eyebrow | |
| Laterally extended eyebrow | |
| Prominent eyelashes | |
| Infra-orbital fold | |
| Antihelical shelf | |
| Absent antihelix | |
| Additional crus of antihelix | |
| Angulated antihelix | |
| Broad inferior crus of antihelix | |
| Prominent inferior crus of antihelix | |
| Underdeveloped inferior crus of antihelix | |
| Prominent stem of antihelix | |
| Serpiginous stem of antihelix | |
| Underdeveloped stem of antihelix | |
| Abnormality of inferior crus of antihelix | |
| Abnormality of stem of antihelix | |
| Abnormality of superior crus of antihelix | |
| Underdeveloped superior crus of antihelix | |
| Prominent superior crus of antihelix | |
| Everted antitragus | |
| Absent antitragus | |
| Bifid antitragus | |
| Underdeveloped antitragus | |
| Cryptotia | |
| Type I cryptotia | |
| Type II cryptotia | |
| Absent crus of helix | |
| Crus of helix connected to antihelix | |
| Serpiginous crus of helix | |
| Tragal bridge of crus of helix | |
| Expanded terminal portion of crus of helix | |
| Darwin notch of helix | |
| Darwin tubercle of helix | |
| Crimped helix | |
| Forward facing earlobe | |
| Discontinuous ascending root of helix | |
| Cleft earlobe | |
| Microtia, first degree | |
| Microtia, third degree | |
| Absent tragus | |
| Bifid tragus | |
| Duplicated tragus | |
| Prominent tragus | |
| Underdeveloped tragus | |
| Anisocytosis | |
| Recurrent mycobacterial infections | |
| Recurrent mycobacterium avium complex infections | |
| Vascular skin abnormality | |
| Abnormality of the urinary system physiology | |
| Intrapulmonary sequestration | |
| Abnormality of urine bicarbonate concentration | |
| Abnormality of urine calcium concentration | |
| Abnormality of urine catecholamine concentration | |
| Abnormality of hindbrain morphology | |
| Abnormality of the metencephalon | |
| Short-segment aganglionic megacolon | |
| Long-segment aganglionic megacolon | |
| Total colonic aganglionosis | |
| EEG with occipital sharp slow waves | |
| EEG with parietal sharp slow waves | |
| EEG with temporal sharp slow waves | |
| EEG with frontal sharp slow waves | |
| EEG with central sharp slow waves | |
| EEG with occipital sharp waves | |
| EEG with central sharp waves | |
| EEG with frontal sharp waves | |
| EEG with parietal sharp waves | |
| EEG with temporal sharp waves | |
| Abnormality of digit | |
| Prominent digit pad | |
| Partial absence of finger | |
| Broad fingertip | |
| Absent foot | |
| Long palm | |
| Convex contour of sole | |
| Broad thumb | |
| Partial absence of toe | |
| Splayed toes | |
| Slender toe | |
| Tapered toe | |
| Bridged palmar crease | |
| Sydney crease | |
| Fused nails | |
| Narrow nail | |
| Abnormality of long bone morphology | |
| Unicoronal synostosis | |
| Left unicoronal synostosis | |
| Right unicoronal synostosis | |
| Bicoronal synostosis | |
| Bilambdoid synostosis | |
| Unilambdoid synostosis | |
| Left unilambdoid synostosis | |
| Right unilambdoid synostosis | |
| Cleft of chin | |
| Multiple suture craniosynostosis | |
| Pansynostosis | |
| Anterior plagiocephaly | |
| Posterior plagiocephaly | |
| Abnormality of fontanelles | |
| Abnormality of cranial sutures | |
| Metopic synostosis | |
| Hemifacial atrophy | |
| Hemifacial hypoplasia | |
| Asymmetric crying face | |
| Facial shape deformation | |
| Frontal hirsutism | |
| Bitemporal forceps marks | |
| Abnormality of mouth size | |
| Abnormality of mouth shape | |
| Abnormality of upper lip vermillion | |
| Incomplete cleft of the upper lip | |
| Long upper lip | |
| Mild global developmental delay | |
| Moderate global developmental delay | |
| Severe global developmental delay | |
| Moderate expressive language delay | |
| Mild expressive language delay | |
| Abnormality of ocular abduction | |
| Abnormality of the sixth cranial nerve | |
| Abducens palsy | |
| Mild receptive language delay | |
| Moderate receptive language delay | |
| Severe receptive language delay | |
| Arterial intimal fibrosis | |
| Generalized abnormality of skin | |
| Localized skin lesion | |
| Regional abnormality of skin | |
| Abnormality of hair density | |
| Generalized hypopigmentation of hair | |
| Dry hair | |
| Acquired abnormal hair pattern | |
| Congenital abnormal hair pattern | |
| Abnormal hair quantity | |
| Abnormality of hair growth rate | |
| White hair | |
| Patchy hypopigmentation of hair | |
| Yellow nails | |
| Epidermal thickening | |
| Mongolian blue spot | |
| Recurrent cutaneous fungal infections | |
| Recurrent viral skin infections | |
| Aplasia of the inner ear | |
| Incomplete partition of the cochlea | |
| Incomplete partition of the cochlea type I | |
| Cochlear aplasia | |
| Morphological abnormality of the vestibule of the inner ear | |
| Aplasia of the vestibule | |
| Hypoplasia of the vestibule of the inner ear | |
| Dilated vestibule of the inner ear | |
| Morphological abnormality of the semicircular canal | |
| Aplasia of the semicircular canal | |
| Hypoplasia of the semicircular canal | |
| Enlarged semicircular canal | |
| Abnormality of the internal auditory canal | |
| Absent internal auditory canal | |
| Narrow internal auditory canal | |
| Enlarged vestibular aqueduct | |
| Enlarged cochlear aqueduct | |
| Functional abnormality of the inner ear | |
| Morphological abnormality of the inner ear | |
| Morphological abnormality of the nerves of the inner ear | |
| Abnormality of the vestibular nerve | |
| Aplasia of the vestibular nerve. | |
| Hypoplasia of the vestibular nerve | |
| Aplasia/Hypoplasia of the cochlea | |
| Abnormality of the cochlear nerve | |
| Abnormality of the dorsal column of the spinal cord | |
| Central hypotonia | |
| Tibialis atrophy | |
| Abnormal CNS myelination | |
| Delayed peripheral myelination | |
| Demyelinating sensory neuropathy | |
| Abnormal umbilical cord blood vessels | |
| Lethal short-trunk short stature | |
| Childhood onset short-limb short stature | |
| Infancy onset short-trunk short stature | |
| Proportionate tall stature | |
| Moderate intrauterine growth retardation | |
| Abnormality of placental membranes | |
| Caesarian section | |
| Forceps delivery | |
| Ventouse delivery | |
| Shoulder dystocia | |
| Hydropic placenta | |
| Calcified placenta | |
| Placental infarction | |
| Long umbilical cord | |
| Abnormal insertion of umbilical cord | |
| Placental abruption | |
| Time of death | |
| Death in adolescence | |
| Abnormality of chloride homeostasis | |
| Hyperchloremia | |
| Increased serum zinc | |
| Fetal ultrasound soft marker | |
| Fetal choroid plexus cysts | |
| Enlarged fetal cisterna magna | |
| Short fetal femur length | |
| Short fetal humerus length | |
| Hypoplasia of fetal nasal bone | |
| Fetal fifth finger clinodactyly | |
| High maternal serum alpha-fetoprotein | |
| High maternal serum chorionic gonadotropin | |
| Low maternal serum chorionic gonadotropin | |
| Low maternal serum PAPP-A | |
| Abnormal maternal serum screening | |
| Maternal autoimmune disease | |
| Maternal teratogenic exposure | |
| Anesthetic-induced rhabdomylosis | |
| Alcohol-induced rhabdomyolysis | |
| Abnormality of the medulla oblongata | |
| Abnormality of central motor function | |
| Abnormality of coordination | |
| Decorticate rigidity | |
| Athetoid cerebral palsy | |
| Abnormality of higher mental function | |
| Hyposegmentation of neutrophil nuclei | |
| Ankle clonus | |
| Knee clonus | |
| CNS infection | |
| Congenital microcephaly | |
| Functional abnormality of the middle ear | |
| Abnormality of the incus | |
| Abnormality of the malleus | |
| Absent malleus | |
| Absent stapes | |
| Loss of eyelashes | |
| Abdominal symptom | |
| Esophageal carcinoma | |
| Embryonal onset | |
| Fetal onset | |
| Young adult onset | |
| Childhood onset | |
| Aganglionosis of the small intestine | |
| Duodenal aganglionosis | |
| Aplasia/Hypoplasia of the gallbladder | |
| Absent gallbladder | |
| Facial tics | |
| Nasal regurgitation | |
| Nasogastric tube feeding in infancy | |
| Gastrostomy tube feeding in infancy | |
| Abnormality of small intestinal villus morphology | |
| Villous atrophy | |
| Childhood onset sensorineural hearing impairment | |
| Persistent stapedial artery | |
| Profound sensorineural hearing impairment | |
| Upbeat nystagmus | |
| True anophthalmia | |
| Abnormality of the lacrimal punctum | |
| Unilateral microphthalmos | |
| Abnormality of the lacrimal duct | |
| Abnormality of the lacrimal gland | |
| Anterior synechiae of the anterior chamber | |
| Posterior synechiae of the anterior chamber | |
| Corneolenticular adhesion | |
| Abnormality of corneal thickness | |
| Increased corneal thickness | |
| Abnormality of corneal endothelium | |
| Abnormal migration of corneal endothelium | |
| Abnormality of Descemet's membrane | |
| Reduced number of corneal endothelial cells | |
| Abnormality of corneal stroma | |
| Central opacification of the cornea | |
| Generalized opacification of the cornea | |
| Abnormality of corneal epithelium | |
| Corneal neovascularization | |
| Iris neovascularization | |
| Partial aniridia | |
| Mydriasis | |
| Polycoria | |
| Anterior lenticonus | |
| Posterior lenticonus | |
| Aplasia of the fovea | |
| Bull's eye maculopathy | |
| Cystoid macular edema | |
| Choroidal neovascularization of the macula | |
| Macular flecks | |
| Macular hole | |
| Macular hyperpigmentation | |
| Drusen | |
| Macular schisis | |
| Hyperpigmentation of the fundus | |
| Retinal cavernous angioma | |
| Abnormality of binocular vision | |
| Abnormal stereopsis | |
| Rod monochromacy | |
| Cone monochromacy | |
| Dichromacy | |
| Anomalous trichromacy | |
| Deuteranomoly | |
| Deuteranopia | |
| Protanopia | |
| Iris cyst | |
| Iris melanoma | |
| Iris nevus | |
| Abnormality of lens shape | |
| Lentiglobus | |
| Single isolated congenital hypertrophy of retinal pigment epithelium | |
| Multiple bilateral congenital hypertrophy of retinal pigment epithelium | |
| Retinal hole | |
| Vitreitis | |
| Subretinal exudate | |
| Snowflake retinal degeneration | |
| Abnormal spatial orientation of the cardiac segments | |
| Abnormal atrial arrangement | |
| Right atrial isomerism | |
| Left atrial isomerism | |
| Atrial situs inversus | |
| Atrial situs ambiguous | |
| Congenitally corrected transposition of the great arteries | |
| Criss-cross atrioventricular valves | |
| Criss-cross atrioventricular valves with superior-inferior ventricles | |
| Superior-inferior ventricles without criss-cross atrioventricular valves | |
| L-looping of the right ventricle | |
| Abnormal connection of the cardiac segments | |
| Abnormal atrioventricular connection | |
| Absent left sided atrioventricular connection | |
| Absent right sided atrioventricular connection | |
| Univentricular heart with absent left sided atrioventricular connection | |
| Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection | |
| Right sided atrium to left ventricle and absent left sided atrioventricular connection | |
| Ambiguous atrioventricular connection | |
| Discordant atrioventricular connection | |
| Double inlet atrioventricular connection | |
| Double inlet left ventricle | |
| Double inlet right ventricle | |
| Double inlet to single ventricle of indeterminate morphology | |
| Double inlet to single ventricle with common atrioventricular orifice | |
| Double inlet to single ventricle with two atrioventricular valves | |
| Mitral atresia | |
| Overriding atrioventricular valve | |
| Straddling atrioventricular valve | |
| Abnormal ventriculo-arterial connection | |
| Mitral valve arcade | |
| Common atrium | |
| Cor triatriatum dexter | |
| Sinus venosus atrial septal defect | |
| Double orifice mitral valve | |
| Cleft anterior mitral valve leaflet | |
| Congenital mitral stenosis | |
| Parachute mitral valve | |
| Supramitral ring | |
| Hypoplastic tricuspid valve | |
| Imperforate atrioventricular valve | |
| Imperforate tricuspid valve | |
| Intermediate atrioventricular canal defect | |
| Partial atrioventricular canal defect | |
| Transitional atrioventricular canal defect | |
| Unbalanced atrioventricular canal defect | |
| Short chordae tendineae of the mitral valve | |
| Double outlet left ventricle | |
| Abdominal ectopia cordis | |
| Cervical ectopia cordis | |
| Thoracocervical ectopia cordis | |
| Thoracic ectopia cordis | |
| Thoracoabdominal ectopia cordis | |
| Abnormal branching pattern of the aortic arch | |
| Cervical aortic arch | |
| Common origin of the right brachiocephalic artery and left common carotid artery | |
| Double aortic arch | |
| Left aortic arch with cervical origin of the right subclavian artery | |
| Left aortic arch with isolated subclavian artery | |
| Left aortic arch with retroesophageal diverticulum of Kommerell | |
| Right aortic arch with retroesophageal diverticulum of Kommerell | |
| Left aortic arch with retroesophageal right subclavian artery | |
| Left aortic arch with right descending aorta and right ductus arteriosus | |
| Right aortic arch with left descending aorta and left ductus arteriosus | |
| Right aortic arch with retroesophageal left subclavian artery | |
| Mesocardia | |
| Abnormal direction of ventricular apex | |
| Rightward direction of ventricular apex | |
| Midline direction of ventricular apex | |
| Congenital malformation of the great arteries | |
| Aortopulmonary window | |
| Congenitally corrected transposition of the great arteries with ventricular septal defect | |
| Transposition of the great arteries with intact ventricular septum | |
| Transposition of the great arteries with ventricular septal defect | |
| Type II truncus arteriosus | |
| Type III truncus arteriosus | |
| Type IV truncus arteriosus | |
| Interrupted aortic arch | |
| Interrupted aortic arch type A | |
| Interrupted aortic arch type B | |
| Interrupted aortic arch type C | |
| Abnormality of pulmonary situs | |
| Pulmonary situs inversus | |
| Pulmonary situs ambiguus | |
| Pulmonary situs ambiguus with bilateral morphologic right lungs | |
| Pulmonary situs ambiguus with bilateral morphologic left lungs | |
| Abnormality of abdominal situs | |
| Gerbode ventricular septal defect | |
| Inlet ventricular septal defect | |
| Muscular ventricular septal defect | |
| Apical muscular ventricular septal defect | |
| Multiple muscular ventricular septal defects | |
| Scimitar anomaly | |
| Aorto-ventricular tunnel | |
| Congenital defect of the pericardium | |
| Total absence of the pericardium | |
| Complete diaphragmatic absence of pericardium | |
| Complete right sided absence of pericardium | |
| Partial right sided absence of pericardium | |
| Complete left sided absence of pericardium | |
| Partial left sided absence of pericardium | |
| Partial diaphragmatic absence of pericardium | |
| Abnormal origin of the coronary arteries | |
| Anomalous origin of coronary artery from the pulmonary artery | |
| Anomalous origin of left coronary artery from the pulmonary artery | |
| Anomalous origin of right coronary artery from the pulmonary artery | |
| Single coronary artery origin | |
| Coronary artery fistula | |
| Abnormality of the coronary sinus | |
| Coronary sinus atrial septal defect | |
| Coronary sinus diverticulum | |
| Sinus of Valsalva aneurysm | |
| Juxtaductal coarctation of the aorta | |
| Postductal coarctation of the aorta | |
| Patent ductus arteriosus after birth at term | |
| Patent ductus arteriosus after premature birth | |
| Bilateral ductus arteriosus | |
| Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | |
| Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis | |
| Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis | |
| Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis | |
| Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis | |
| Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis | |
| Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis | |
| Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis | |
| Tetralogy of Fallot with absent pulmonary valve | |
| Anomalous origin of one pulmonary artery from ascending aorta | |
| Anomalous origin of left pulmonary artery from ascending aorta | |
| Tricuspid atresia | |
| Right ventricular cardiomyopathy | |
| Left ventricular noncompaction cardiomyopathy | |
| Takotsubo cardiomyopathy | |
| Absent right superior vena cava | |
| Bilateral superior vena cava with bridging vein | |
| Bilateral superior vena cava with no bridging vein | |
| Left superior vena cava draining directly to the left atrium | |
| Left superior vena cava draining to coronary sinus | |
| Interrupted inferior vena cava with azygous continuation | |
| Cardiac myxoma | |
| Cardiac hemangioma | |
| Cardiac teratoma | |
| Arrhythmia | |
| Tetralogy of Fallot with absent subarterial conus | |
| Tetralogy of Fallot with atrioventricular canal defect | |
| Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries | |
| Tetralogy of Fallot with pulmonary stenosis | |
| Single ventricle of indeterminate morphology | |
| Subarterial ventricular septal defect | |
| Perimembranous ventricular septal defect | |
| Restrictive ventricular septal defect | |
| Non-restrictive ventricular septal defect | |
| Infra-aortic superior vena cava | |
| Abnormal coronary artery course | |
| AV nodal tachycardia | |
| Supraventricular tachycardia with an accessory connection mediated pathway | |
| Supraventricular tachycardia with a concealed accessory connection | |
| Permanent junctional reciprocating tachycardia | |
| Supraventricular tachycardia with a concealed accessory pathway on the left free wall | |
| Supraventricular tachycardia with a concealed accessory pathway on the right free wall | |
| Supraventricular tachycardia with a concealed accessory pathway on the septum | |
| Supraventricular tachycardia with a manifest accessory pathway | |
| Cerebellar hemorrhage | |
| Supraventricular tachycardia with a manifest accessory pathway on the left free wall | |
| Supraventricular tachycardia with a manifest accessory pathway on the right free wall | |
| Supraventricular tachycardia with a manifest accessory pathway on the septum | |
| Atrial reentry tachycardia | |
| Automatic atrial tachycardia | |
| Multifocal atrial tachycardia | |
| Abnormal electrophysiology of sinoatrial node origin | |
| Sinus tachycardia | |
| Sick sinus syndrome | |
| First degree atrioventricular block | |
| Second degree atrioventricular block | |
| Mobitz I atrioventricular block | |
| Mobitz II atrioventricular block | |
| Atrioventricular dissociation | |
| Bundle branch block | |
| Left anterior fascicular block | |
| Right bundle branch block | |
| Left bundle branch block | |
| Libman-Sacks lesions | |
| Trifascicular block | |
| Junctional ectopic tachycardia | |
| AV nodal reentry tachycardia | |
| Abnormality of the pulmonary veins | |
| Supracardiac total anomalous pulmonary venous connection | |
| Cardiac total anomalous pulmonary venous connection | |
| Infracardiac total anomalous pulmonary venous connection | |
| Mixed total anomalous pulmonary venous connection | |
| Congenital malformation of the right heart | |
| Uhl's anomaly | |
| Chaotic multifocal atrial tachycardia | |
| Persistent fetal circulation | |
| Peroneal muscle weakness | |
| Elbow clonus | |
| Abnormality of joint mobility | |
| Abnormality of central sensory function | |
| Abnormality of circulating cortisol level | |
| Abnormality of adrenal morphology | |
| Abnormality of adrenal physiology | |
| Central adrenal insufficiency | |
| Adrenocorticotropin (ACTH) deficient adrenal insufficiency | |
| Primary hyperaldosteronism | |
| Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency | |
| Corticotropin-releasing hormone receptor (CRHR) defect | |
| Dexamethasone-suppresible primary hyperaldosteronism | |
| Glucocortocoid-insensitive primary hyperaldosteronism | |
| Secondary hyperaldosteronism | |
| Ectopic adrenal gland | |
| Adrenal gland agenesis | |
| Secondary hypercorticolism | |
| Non-secretory adrenocortical adenoma | |
| Secretory adrenocortical adenoma | |
| Abnormality of the anterior pituitary | |
| Adrenocorticotropic hormone deficiency | |
| Adrenocorticotropic hormone excess | |
| Neoplasm of the anterior pituitary | |
| Abnormality of the posterior pituitary | |
| Neoplasm of the posterior pituitary | |
| Posterior pituitary dysgenesis | |
| Pituicytoma | |
| Ectopic posterior pituitary | |
| Posterior pituitary agenesis | |
| Posterior pituitary hypoplasia | |
| Pituitary acidophilic stem cell adenoma | |
| Pituitary gonadotropic cell adenoma | |
| Pituitary growth hormone cell adenoma | |
| Pituitary null cell adenoma | |
| Pituitary thyrotropic cell adenoma | |
| Pituitary carcinoma | |
| Pituitary spindle cell oncocytoma | |
| obsolete Ectopic anterior pituitary | |
| Abnormality of the parathyroid morphology | |
| Abnormality of the parathyroid physiology | |
| Parathyroid dysgenesis | |
| Ectopic parathyroid | |
| Tertiary hyperparathyroidism | |
| Autoimmune hypoparathyroidism | |
| Abnormality of thyroid morphology | |
| Uninodular goiter | |
| Thyroid follicular adenoma | |
| Thyroid macrofollicular adenoma | |
| Thyroid microfollicular adenoma | |
| Thyroid papillary adenoma | |
| Thyroid atypical adenoma | |
| Anaplastic thyroid carcinoma | |
| Thyroid hemiagenesis | |
| Thyroid C cell hyperplasia | |
| Thyroid crisis | |
| Thyrotoxicosis from ectopic thyroid tissue | |
| Thyrotoxicosis with diffuse goiter | |
| Thyrotoxicosis with toxic multinodular goitre | |
| Thyrotoxicosis with toxic single thyroid nodule | |
| Central hypothyroidism | |
| Increased serum free triiodothyronine (fT3) | |
| Thyroid-stimulating hormone receptor (TSHR) defect | |
| Activating thyroid-stimulating hormone receptor (TSHR) defect | |
| Inactivating thyroid-stimulating hormone receptor (TSHR) defect | |
| Neoplasm by histology | |
| Neoplasm by anatomical site | |
| Embryonal renal neoplasm | |
| Intralobar nephroblastomatosis | |
| Perilobar nephroblastomatosis | |
| Papillary renal cell carcinoma type 1 | |
| Renal oncocytoma | |
| Abnormality of facial soft tissue | |
| Midface retrusion | |
| Enlargement of parotid gland | |
| Hamartoma of tongue | |
| Bifid nose | |
| Abnormality of muscle physiology | |
| Abnormality of muscle morphology | |
| Type 1 muscle fiber atrophy | |
| Decreased patellar reflex | |
| Paradoxical myotonia | |
| Impaired two-point discrimination | |
| Impaired touch localization | |
| Agraphesthesia | |
| Increased cerebral lipofuscin | |
| Increased urinary hypoxanthine | |
| Cephalocele | |
| Parietal encephalocele | |
| Basal encephalocele | |
| Nasofrontal encephalocele | |
| Submucous cleft soft palate | |
| Membranous choanal atresia | |
| Abnormality of facial skeleton | |
| Broad chin | |
| Chin with horizontal crease | |
| Chin with H-shaped crease | |
| Tented philtrum | |
| Philtrum with midline raphe | |
| Malaligned philtral ridges | |
| Midline sinus of philtrum | |
| Narrow philtrum | |
| Abnormality of oral mucosa | |
| Deviated nasal tip | |
| Narrow nasal tip | |
| Overhanging nasal tip | |
| Moyamoya phenomenon | |
| Absent scaphoid | |
| Delayed talus ossification | |
| Partial IgA deficiency | |
| Sclerodactyly | |
| Abnormality of T cell number | |
| Abnormality of T cell physiology | |
| Ventricular flutter | |
| Abnormality of skeletal morphology | |
| Abnormality of skeletal physiology | |
| Abnormal appendicular skeleton morphology | |
| Short second metatarsal | |
| Osteoblastoma | |
| Giant cell tumor of bone | |
| Abdominal colic | |
| Abnormal bone ossification | |
| Parotitis | |
| Hemopericardium | |
| Chylopericardium | |
| Serous pericardial effusion | |
| Hemoperitoneum | |
| Pharyngeal edema | |
| Pica | |
| Plasmacytoma | |
| Reduced factor IX activity | |
| Punctate keratitis | |
| Metaphyseal dappling | |
| Bilateral trilobed lungs | |
| Abnormal bone collagen fibril morphology | |
| Abnormal sternal ossification | |
| Elevated plasma pyrophosphate | |
| Abnormality of the wing of the ilium | |
| Sciatica | |
| Abnormal platelet function | |
| Impaired arachidonic acid-induced platelet aggregation | |
| Impaired ristocetin-induced platelet aggregation | |
| Impaired thrombin-induced platelet aggregation | |
| Abnormal platelet count | |
| Heparin-induced thrombocytopenia | |
| Abnormal platelet morphology | |
| Abnormal platelet volume | |
| Increased mean platelet volume | |
| Abnormal platelet membrane protein expression | |
| Decreased platelet glycoprotein Ib-IX-V | |
| Acute disseminated intravascular coagulation | |
| Decreased platelet glycoprotein VI | |
| Decreased platelet P2Y12 receptor | |
| Abnormal platelet granules | |
| Abnormal umbilical stump bleeding | |
| Hemorrhage of the eye | |
| Hyphema | |
| Choroid hemorrhage | |
| Bleeding requiring red cell transfusion | |
| Bleeding with minor or no trauma | |
| Prolonged bleeding following procedure | |
| Post-partum hemorrhage | |
| Vitamin K deficiency | |
| Abnormal leukocyte count | |
| Impaired thromboxane A2 agonist-induced platelet aggregation | |
| Anemia due to reduced life span of red cells | |
| Subconjunctival hemorrhage | |
| Neutrophillia | |
| Abnormality of circulating fibrinogen | |
| Hyperfibrinogenemia | |
| Hypofibrinogenemia | |
| Dysfibrinogenemia | |
| Abnormal hemoglobin | |
| Hemoglobin H | |
| Persistence of hemoglobin F | |
| Reduced hemoglobin A | |
| Reduced beta/alpha synthesis ratio | |
| Reduced alpha/beta synthesis ratio | |
| Unilateral radial aplasia | |
| Flattened metacarpal heads | |
| Shortening of all phalanges of fingers | |
| Abnormality of metacarpophalangeal joint | |
| Abnormality of the glenoid fossa | |
| Lumbar hypertrichosis | |
| Thoracic hypertrichosis | |
| Cardiovascular calcification | |
| Toe extensor amyotrophy | |
| Short 5th toe | |
| Clinodactyly of the 4th toe | |
| Pleural empyema | |
| Transudative pleural effusion | |
| Exudative pleural effusion | |
| Abnormal activity of mitochondrial respiratory chain | |
| Decreased activity of mitochondrial complex I | |
| Decreased activity of mitochondrial complex III | |
| Decreased activity of mitochondrial ATP synthase complex | |
| Proximal placement of hallux | |
| Short digit | |
| Short proximal phalanx of toe | |
| Hypersegmentation of proximal phalanx of third finger | |
| Hyperextensible skin of chest | |
| Abnormality of the cerebellar peduncle | |
| Abnormality of the superior cerebellar peduncle | |
| Elongated superior cerebellar peduncle | |
| Mesenteric artery aneurysm | |
| Decreased urinary urate | |
| Decreased plasma total carnitine | |
| Hypoplastic fifth toenail | |
| 3-4 finger cutaneous syndactyly | |
| Anterior wedging of T12 | |
| Anterior wedging of L2 | |
| Increased urinary sulfite | |
| Increased urinary thiosulfate | |
| Small vessel vasculitis | |
| Bronchiolitis obliterans organizing pneumonia | |
| Bronchiolitis obliterans | |
| Respiratory tract infection | |
| Acute respiratory tract infection | |
| Acute infectious pneumonia | |
| Bronchiolitis | |
| Aspiration pneumonia | |
| Acute aspiration pneumonia | |
| Pulmonary lymphoma | |
| Nodular regenerative hyperplasia of liver | |
| Hepatic granulomatosis | |
| Intestinal lymphoid nodular hyperplasia | |
| Abnormality of the pectoral muscle | |
| Retinal perforation | |
| Unilateral hypoplasia of pectoralis major muscle | |
| Substantia nigra gliosis | |
| Non-obstructive azoospermia | |
| Obstructive azoospermia | |
| Pretesticular azoospermia | |
| Intermittent painful muscle spasms | |
| Abnormality of citrulline metabolism | |
| Elevated plasma citrulline | |
| Hypocupremia | |
| Feeding difficulties | |
| Elevated luteinizing hormone | |
| Cerebral amyloid angiopathy | |
| Dermatographic urticaria | |
| Hypoglycorrhachia | |
| Paroxysmal lethargy | |
| Myelofibrosis | |
| Aminoglycoside-induced hearing loss | |
| Elevated urinary catecholamines | |
| Elevated urinary homovanillic acid | |
| Elevated urinary vanillylmandelic acid | |
| Elevated urinary dopamine | |
| Cholesterol gallstones | |
| Pigment gallstones | |
| Black pigment gallstones | |
| Brown pigment gallstones | |
| Atretic gallbladder | |
| Acholic stools | |
| Ectopic ossification | |
| Ectopic ossification in muscle tissue | |
| Ectopic ossification in tendon tissue | |
| Ectopic ossification in ligament tissue | |
| Abnormality of neutrophil physiology | |
| Abnormal neutrophil cell number | |
| Abnormality of neutrophil morphology | |
| Impaired neutrophil bactericidal activity | |
| Abnormality of the atrial septum | |
| Atrial septal aneurysm | |
| Elevated factor V activity | |
| Postprandial hyperlactemia | |
| Postprandial hyperglycemia | |
| Paranoia | |
| EEG with generalized spikes | |
| EEG with generalized polyspikes | |
| Experiential auras | |
| Affective auras | |
| Mnemonic auras | |
| Deja vu | |
| Jamais vu | |
| Hallucinatory auras | |
| Illusory auras | |
| EEG with central focal spike waves | |
| EEG with frontal focal spike waves | |
| EEG with occipital focal spike waves | |
| EEG with parietal focal spike waves | |
| EEG with temporal focal spike waves | |
| EEG with central focal spikes | |
| EEG with frontal focal spikes | |
| EEG with occipital focal spikes | |
| EEG with parietal focal spikes | |
| EEG with temporal focal spikes | |
| Lens luxation | |
| Right aortic arch | |
| Persistent patent ductus venosus | |
| Congenital portosystemic venous shunt | |
| Galactosuria | |
| Hypergalactosemia | |
| Abnormality of ornithine metabolism | |
| Hyperornithinemia | |
| Laryngeal edema | |
| Hepatocellular adenoma | |
| Abnormality of urine hormone level | |
| Increased urinary cortisol level | |
| Lipomatous tumor | |
| Lipoma | |
| Sacral lipoma | |
| Liposarcoma | |
| Steatocystoma multiplex | |
| Sternocleidomastoid amyotrophy | |
| Pectoralis amyotrophy | |
| Corneal guttata | |
| Descemet Membrane Folds | |
| Corneal stromal edema | |
| Decreased fertility in males | |
| Aspirin-induced asthma | |
| Pendular nystagmus | |
| Seesaw nystagmus | |
| Retinal flecks | |
| Areflexia of upper limbs | |
| Hemeralopia | |
| Oromandibular dystonia | |
| Laryngeal dystonia | |
| Anasarca | |
| Reactive hypoglycemia | |
| Low serum calcitriol (1,25-dihydroxycholecalciferol) | |
| Low serum calcifediol (25-hydroxycholecalciferol) | |
| Choroidal melanoma | |
| Ciliary body melanoma | |
| Cutaneous melanoma | |
| Superficial spreading melanoma | |
| Nodular melanoma | |
| Lentigo maligna melanoma | |
| Acral lentiginous melanoma | |
| Urinary excretion of sialylated oligosaccharides | |
| Bone cyst | |
| Aneurysmal bone cyst | |
| Unicameral bone cyst | |
| Multiple bony cystic lesions | |
| Increased urinary disaccharide excretion | |
| Glycopeptiduria | |
| Aspartylglucosaminuria | |
| Keratan sulfate excretion in urine | |
| Chondroitin sulfate excretion in urine | |
| Abnormality of acetylcarnitine metabolism | |
| Aciduria | |
| Abnormal urinary acylglycine profile | |
| Tonic pupil | |
| Personality disorder | |
| Borderline personality disorder | |
| Histrionic personality disorder | |
| Motor conduction block | |
| Abnormality of central motor conduction | |
| Cerebellar granular layer atrophy | |
| Enlarged cerebellum | |
| Cerebellar Purkinje layer atrophy | |
| Ubiquitin-positive cerebral inclusion bodies | |
| Abnormality of skeletal muscle fiber size | |
| Pyuria | |
| Abnormal urinary color | |
| Abnormal mitochondrial shape | |
| Abnormal urinary odor | |
| Arteritis | |
| Abnormality of pancreas morphology | |
| Abnormality of pancreas physiology | |
| Abnormality of exocrine pancreas physiology | |
| Abnormality of endocrine pancreas physiology | |
| Abnormal pancreas size | |
| Multiple joint dislocation | |
| Intracranial epidermoid cyst | |
| Intracranial dermoid cyst | |
| Edema of the dorsum of feet | |
| Abnormality of circulating catecholamine level | |
| Abnormal circulating creatinine level | |
| Decreased serum creatinine | |
| Abnormal mitochondrial number | |
| Abnormality of the mitochondrion | |
| Parietal cortical atrophy | |
| Occipital cortical atrophy | |
| Rhizomelic leg shortening | |
| Increased fibular diameter | |
| Primary open angle glaucoma | |
| Primary angle closure glaucoma | |
| Hypoplasia of the pons | |
| Abnormality of circulating glucocorticoid level | |
| Abnormality of circulating corticosterone level | |
| Abnormality of creatine metabolism | |
| Endometrial carcinoma | |
| Hepatitis | |
| Abnormal albumin level | |
| Hyperalbuminemia | |
| Laryngeal carcinoma | |
| Methemoglobinemia | |
| Methylmalonic aciduria | |
| Panuveitis | |
| Anterior uveitis | |
| Posterior uveitis | |
| Intermediate uveitis | |
| Prostate cancer | |
| Stomach cancer | |
| Uraciluria | |
| Basal ganglia necrosis | |
| Abnormality of bone marrow stromal cells | |
| Abnormality of cells of the erythroid lineage | |
| Abnormal number of erythroid precursors | |
| Erythroid hyperplasia | |
| Erythroid hypoplasia | |
| Dysplastic erythropoesis | |
| Abnormality of cells of the granulocytic lineage | |
| Dysplastic granulopoesis | |
| Abnormal number of granulocyte precursors | |
| Granulocytic hyperplasia | |
| Granulocytic hypoplasia | |
| Abnormality of cells of the lymphoid lineage | |
| Pancreatic squamous cell carcinoma | |
| Abnormality of cells of the megakaryocyte lineage | |
| Abnormality of cells of the monocyte/macrophage lineage | |
| Abnormality of multiple cell lineages in the bone marrow | |
| Abnormality of von Willebrand factor | |
| Reduced quantity of Von Willebrand factor | |
| Multiple lineage myelodysplasia | |
| Bilineage myelodysplasia | |
| Single lineage myelodysplasia | |
| Hemothorax | |
| Foveoschisis | |
| Hypotriglyceridemia | |
| Anhedonia | |
| Decreased corneal sensation | |
| Hemophagocytosis | |
| Subcortical cerebral atrophy | |
| Carotid artery dissection | |
| Internal carotid artery dissection | |
| Intracranial internal carotid artery dissection | |
| External carotid artery dissection | |
| Common carotid artery dissection | |
| Carotid artery aneurysm | |
| Asterixis | |
| Oligodactyly | |
| Skin-picking | |
| Hair-pulling | |
| Head-banging | |
| Self-biting | |
| Nail-biting | |
| Stereotypical hand wringing | |
| Stereotypical body rocking | |
| Orthostatic tachycardia | |
| Glioblastoma multiforme | |
| Resistance to activated protein C | |
| Abnormality of natural killer cells | |
| Abnormal natural killer cell physiology | |
| Reduced natural killer cell activity | |
| Craniofacial dystonia | |
| Cystic medial necrosis | |
| Entrapment neuropathy | |
| Oropharyngeal squamous cell carcinoma | |
| Hyperplastic colonic polyposis | |
| Hyperalphalipoproteinemia | |
| Constrictive median neuropathy | |
| Entrapment neuropathy of the ulnar nerve at elbow | |
| Increased erythrocyte protoporphyrin concentration | |
| Hyperemesis gravidarum | |
| Hodgkin lymphoma | |
| T-cell lymphoma | |
| B-cell lymphoma | |
| Cutaneous T-cell lymphoma | |
| Anaplastic large-cell lymphoma | |
| Episodic hemiplegia | |
| Irregular respiration | |
| Cheyne-Stokes respiration | |
| Insulinoma | |
| Juvenile colonic polyposis | |
| Cluster headache | |
| Abnormality of prothrombin | |
| Reduced prothrombin activity | |
| Increased serum bile acid concentration | |
| Onychomycosis | |
| Recurrent vulvovaginal candidiasis | |
| Globozoospermia | |
| Abnormal sperm motility | |
| Reduced sperm motility | |
| Nonmotile sperm | |
| Juvenile myelomonocytic leukemia | |
| Abnormal renal morphology | |
| Abnormal renal physiology | |
| Abnormal glomerular filtration rate | |
| Decreased glomerular filtration rate | |
| Increased glomerular filtration rate | |
| Testicular microlithiasis | |
| Entrapment neuropathy of suprascapular nerve | |
| Increased urinary porphobilinogen | |
| Alveolar soft part sarcoma | |
| Erythema nodosum | |
| Non-caseating epithelioid cell granulomatosis | |
| Pretibial blistering | |
| Arachnoid hemangiomatosis | |
| Splenic rupture | |
| Circulating immune complexes | |
| Oligodontia of primary teeth | |
| Ovarian teratoma | |
| Urethral stricture | |
| Tension-type headache | |
| CSF pleocytosis | |
| Rhegmatogenous retinal detachment | |
| Exudative retinal detachment | |
| Shortened QT interval | |
| Intramuscular hematoma | |
| Agranulocytosis | |
| Drug-induced agranulocytosis | |
| Elevated sweat chloride | |
| Urocanic aciduria | |
| Hyperchylomicronemia | |
| Atransferrinemia | |
| Increased intramyocellular lipid droplets | |
| Levator palpebrae superioris atrophy | |
| Superior rectus atrophy | |
| Abnormal genital system morphology | |
| Abnormal sex determination | |
| Sex reversal | |
| Oculomotor nerve palsy | |
| Specific anosmia | |
| Prolonged PR interval | |
| Abnormal ST segment | |
| ST segment depression | |
| ST segment elevation | |
| Abnormal respiratory system morphology | |
| Abnormal respiratory epithelium morphology | |
| Ewing's sarcoma | |
| Dynein arm defect of respiratory motile cilia | |
| Absent outer dynein arms | |
| Absent inner dynein arms | |
| Abnormal axonemal organization of respiratory motile cilia | |
| Absent inner and outer dynein arms | |
| Abnormal central microtubular pair morphology of respiratory motile cilia | |
| Abnormal respiratory motile cilium physiology | |
| Abnormal ciliary motility | |
| Immotile cilia | |
| Absent central microtubular pair morphology of respiratory motile cilia | |
| Ciliary dyskinesia | |
| T-wave alternans | |
| Absent respiratory ciliary axoneme radial spokes | |
| Myxoid liposarcoma | |
| Abnormal muscle glycogen content | |
| Decreased muscle glycogen content | |
| Episodic upper airway obstruction | |
| J wave | |
| Increased carotid artery intimal medial thickness | |
| Autosomal dominant inheritance with paternal imprinting | |
| Autosomal dominant inheritance with maternal imprinting | |
| Digital flexor tenosynovitis | |
| Hypoglycinemia | |
| Abnormality of serine metabolism | |
| Hyposerinemia | |
| Hepatic amyloidosis | |
| Chylous ascites | |
| Morbilliform rash | |
| Small distal femoral epiphysis | |
| Small proximal tibial epiphyses | |
| Abnormal hypothalamus physiology | |
| Abnormal hypothalamus morphology | |
| Hypothalamic luteinizing hormone-releasing hormone deficiency | |
| Neoplasm of head and neck | |
| Facial neoplasm | |
| Mouth neoplasm | |
| obsolete Tracheal neoplasm | |
| Fusion of gums | |
| Abnormal genital pigmentation | |
| Abnormality of the occipital bone | |
| Slender middle phalanx of finger | |
| Slender distal phalanx of finger | |
| Slender proximal phalanx of finger | |
| Long middle phalanx of finger | |
| Long distal phalanx of finger | |
| Ureteral agenesis | |
| Type II transferrin isoform profile | |
| Herpes simplex encephalitis | |
| Abnormality of the aortic arch | |
| Hypoplastic aortic arch | |
| Coarctation of the descending aortic arch | |
| Abnormal rib ossification | |
| Spatulate ribs | |
| Decreased serum complement C9 | |
| Cutaneous amyloidosis | |
| Abnormal monocyte count | |
| Monocytosis | |
| Monocytopenia | |
| Heberden's node | |
| Bouchard's node | |
| Histiocytoma | |
| Fibrous tissue neoplasm | |
| Sacroiliac arthritis | |
| Occipital neuralgia | |
| Absent pigmentation of the abdomen | |
| Absent pigmentation of the limbs | |
| D-2-hydroxyglutaric aciduria | |
| Perifolliculitis | |
| Sleep myoclonus | |
| Myeloid leukemia | |
| Chronic myelomonocytic leukemia | |
| Abnormality of the celiac artery | |
| Celiac artery compression | |
| Cementoma | |
| Tufted angioma | |
| Pyelonephritis | |
| Abnormal autonomic nervous system morphology | |
| Abnormal autonomic nervous system physiology | |
| Abnormal sudomotor regulation | |
| Extrahepatic cholestasis | |
| Abnormality of folate metabolism | |
| Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration | |
| Abnormal homeostasis | |
| Abnormal energy expenditure | |
| Increased resting energy expenditure | |
| Decreased resting energy expenditure | |
| Microprolactinoma | |
| Macroprolactinoma | |
| Decreased serum ferritin | |
| Morphea | |
| Abnormal glycosylation | |
| Abnormal protein glycosylation | |
| Abnormal protein N-linked glycosylation | |
| Decreased galactosylation of N-linked protein glycosylation | |
| Abnormal sialylation of N-linked protein glycosylation | |
| Decreased sialylation of N-linked protein glycosylation | |
| Increased sialylation of N-linked protein glycosylation | |
| Abnormal fucosylation of protein N-linked glycosylation | |
| Decreased fucosylation of N-linked protein glycosylation | |
| Increased fucosylation of N-linked protein glycosylation | |
| Abnormal mannosylation of N-linked protein glycosylation | |
| Decreased mannosylation of N-linked protein glycosylation | |
| Increased mannosylation of N-linked protein glycosylation | |
| Abnormal protein O-linked glycosylation | |
| Abnormal fucosylation of O-linked protein glycosylation | |
| Decreased fucosylation of O-linked protein glycosylation | |
| Increased fucosylation of O-linked protein glycosylation | |
| Abnormal sialylation of O-linked protein glycosylation | |
| Decreased sialylation of O-linked protein glycosylation | |
| Decreased urinary potassium | |
| Hypophosphaturia | |
| Basilar invagination | |
| Extra fontanelles | |
| Flat face | |
| Malar anomaly | |
| Cheekbone prominence | |
| Midface prominence | |
| Abnormal eye morphology | |
| Abnormal eye physiology | |
| Abnormality of the globe | |
| Chemosis | |
| Microphakia | |
| Hemianopsia | |
| Fatigue | |
| Abnormal enzyme/coenzyme activity | |
| Reduced carnitine O-palmitoyltransferase activity | |
| Delayed self-feeding during toddler years | |
| Left-to-right shunt | |
| Bidirectional shunt | |
| Rhinitis | |
| Camptodactyly | |
| Absent hallux | |
| Bronchitis | |
| Acute bronchitis | |
| Appendicular hypotonia | |
| Anal fissure | |
| Hyporeflexia of upper limbs | |
| Jaw hyporeflexia | |
| Allergy | |
| Iodine contrast allergy | |
| Seasonal allergy | |
| Biliary dyskinesia | |
| Aortic atherosclerosis | |
| Peripheral edema | |
| Pressure ulcer | |
| Abnormal aldolase level | |
| Abnormal urine alpha-ketoglutarate concentration | |
| Increased urine alpha-ketoglutarate concentration | |
| Decreased urine alpha-ketoglutarate concentration | |
| Abnormal urine citrate concentration | |
| Hypocitraturia | |
| Hypercitraturia | |
| Scissor gait | |
| Medullary nephrocalcinosis | |
| Cortical nephrocalcinosis | |
| Pure red cell aplasia | |
| Premature pubarche | |
| Premature adrenarche | |
| Notched primary central incisor | |
| Duodenal atrophy | |
| Abnormal blood gas level | |
| Hypercapnia | |
| Hypocapnia | |
| Hypoxemia | |
| Hyperoxemia | |
| Meconium stained amniotic fluid | |
| Congenital absence of foreskin | |
| Villous hypertrophy of choroid plexus | |
| Colonic inertia | |
| Chorioretinitis | |
| Stercoral ulcer | |
| Optic disc drusen | |
| Excessive femoral anteversion | |
| Prominent calcaneus | |
| Aplasia/Hypoplasia of the cerebral white matter | |
| Cerebral white matter hypoplasia | |
| Episodic fatigue | |
| Chronic fatigue | |
| Abnormal social behavior | |
| Delayed social development | |
| Ventral shortening of foreskin | |
| Nonocclusive coronary artery disease | |
| Abnormal gallbladder morphology | |
| Abnormal gallbladder physiology | |
| Abnormal biliary tract physiology | |
| Abnormal biliary tract morphology | |
| Sphincter of Oddi dyskinesia | |
| Gallbladder dyskinesia | |
| Abnormality of brain morphology | |
| Brain atrophy | |
| Low CSF 5-methyltetrahydrofolate | |
| Abnormal myelination | |
| Delayed myelination | |
| Sacroiliac joint synovitis | |
| Chronic constipation | |
| Acute constipation | |
| Restless legs | |
| Bilateral wrist flexion contracture | |
| Unilateral wrist flexion contracture | |
| Large artery calcification | |
| Medial arterial calcification | |
| Medial calcification of medium-sized arteries | |
| Medial calcification of small arteries | |
| Hypnic headache | |
| Dysmorphic inferior cerebellar vermis | |
| Bacteriuria | |
| Chin myoclonus | |
| Elevated transferrin saturation | |
| Decreased transferrin saturation | |
| Elevated hepatic iron concentration | |
| Chronic respiratory acidosis | |
| Acute respiratory acidosis | |
| Chronic acidosis | |
| Infantile spasms | |
| Setting-sun eye phenomenon | |
| Thick vermilion border | |
| Eclabion | |
| Tongue atrophy | |
| Carotid artery occlusion | |
| Specific antibody deficiency | |
| Specific pneumococcal antibody deficiency | |
| Vocal tremor | |
| Temporomandibular joint ankylosis | |
| Temporomandibular joint crepitus | |
| Abnormality of cerebral veins | |
| Cerebral venous angioma | |
| Frontal venous angioma | |
| Abnormal alpha granules | |
| Abnormal dense granules | |
| Abnormal surface-connected open canalicular system | |
| Myelitis | |
| Cerebellopontine angle arachnoid cyst | |
| Intraventricular arachnoid cyst | |
| Suprasellar arachnoid cyst | |
| Panniculitis | |
| Abnormal dense tubular system | |
| Cerebral artery stenosis | |
| Middle cerebral artery stenosis | |
| Anterior cerebral artery stenosis | |
| Posterior cerebral artery stenosis | |
| Reduced maximal inspiratory pressure | |
| Reduced maximal expiratory pressure | |
| Nuchal cord | |
| Descending aortic dissection | |
| Verrucous papule | |
| Abnormality of the brainstem white matter | |
| Abnormality of the internal capsule | |
| Abnormality of the pituitary gland | |
| Abnormal size of pituitary gland | |
| Enlarged pituitary gland | |
| Small pituitary gland | |
| Weakness of orbicularis oculi muscle | |
| Metamorphopsia | |
| Reduced thyroxin-binding globulin | |
| Extra-axial cerebrospinal fluid accumulation | |
| Temporal optic disc pallor | |
| Diffuse optic disc pallor | |
| Upper limb pain | |
| Lower limb pain | |
| Hip flexor weakness | |
| Tetralogy of Fallot with pulmonary atresia | |
| Reduced catalase activity | |
| Abnormality of circle of Willis | |
| Hypoplastic posterior communicating artery | |
| Perivascular spaces | |
| Optic nerve aplasia | |
| Spider hemangioma | |
| Oral aversion | |
| Abnormal platelet shape | |
| Abnormal alpha granule distribution | |
| Absence of alpha granules | |
| Abnormal alpha granule content | |
| Abnormal number of alpha granules | |
| Abnormal dense granule content | |
| Abnormal number of dense granules | |
| Pain | |
| Chronic pain | |
| Allodynia | |
| Dysesthesia | |
| Abnormal synaptic transmission | |
| Maternal anticardiolipin antibody positive | |
| Food intolerance | |
| Gluten intolerance | |
| Non-Hodgkin lymphoma | |
| Axillary epidermoid cyst | |
| Cephalohematoma | |
| Onychauxis | |
| Hemosiderinuria | |
| Elevated aldolase level | |
| Reduced aldolase level | |
| Skewed maternal X inactivation | |
| Abnormal involuntary eye movements | |
| Skeletal muscle fatty infiltration | |
| Conjunctival lipoma | |
| Colonic varices | |
| Absent neutrophil specific granules | |
| Increased neutrophil nuclear projections | |
| Hypoplastic thumbnail | |
| Absent thumbnail | |
| Absent nail of hallux | |
| Hyperbetaalaninemia | |
| EEG with centrotemporal focal spike waves | |
| Abnormal T3/T4 ratio | |
| Increased T3/T4 ratio | |
| Decreased T3/T4 ratio | |
| Unicuspid aortic valve | |
| Premature epimetaphyseal fusion in hand | |
| Premature epimetaphyseal fusion in foot | |
| Premature epimetaphyseal fusion in tibia | |
| Premature epimetaphyseal fusion in fibula | |
| Premature epimetaphyseal fusion in radius | |
| Premature epimetaphyseal fusion in ulna | |
| Lower eyelid edema | |
| Delayed menarche | |
| Synovial sarcoma | |
| Ureter fissus | |
| Ureter duplex | |
| Global proximal tubulopathy | |
| Mesangial proliferation | |
| Abnormality of the nephron | |
| C3 nephropathy | |
| Thin glomerular basement membrane | |
| Membranous nephropathy | |
| Minimal change glomerulonephritis | |
| Calcium phosphate nephrolithiasis | |
| Solitary renal cyst | |
| Bilateral renal dysplasia | |
| Unilateral renal hypoplasia | |
| Bilateral renal hypoplasia | |
| Renal atrophy | |
| Bilateral renal atrophy | |
| Macroscopic hematuria | |
| Steroid-resistant nephrotic syndrome | |
| Multidrug-resistant nephrotic syndrome | |
| Abnormal urine output | |
| Abnormal urinary electrolyte concentration | |
| Albuminuria | |
| Nephrotic range proteinuria | |
| Microalbuminuria | |
| Mild proteinuria | |
| Moderate proteinuria | |
| Heavy proteinuria | |
| Abnormal urine potassium concentration | |
| Abnormal urine phosphate concentration | |
| Abnormal urine chloride concentration | |
| Hypochloriduria | |
| Renal chloride wasting | |
| Abnormal urine sodium concentration | |
| Hyponatriuria | |
| Hypernatriuria | |
| Renal sodium wasting | |
| Abnormal urine magnesium concentration | |
| Hypermagnesiuria | |
| Hypomagnesiuria | |
| Abnormality of urinary uric acid concentration | |
| Increased urinary urate | |
| Abnormal urinary sulfate concentration | |
| Increased urinary sulfate | |
| Abnormal urine cytology | |
| Cylindruria | |
| Leukocyte cylindruria | |
| Erythrocyte cylindruria | |
| Urachal cyst | |
| Multiple bladder diverticula | |
| Cloacal abnormality | |
| Persistent cloaca | |
| Chronic kidney disease | |
| Stage 1 chronic kidney disease | |
| Stage 2 chronic kidney disease | |
| Stage 3 chronic kidney disease | |
| Stage 4 chronic kidney disease | |
| Pseudoexfoliation | |
| Abnormality of the suspensory ligament of lens | |
| Phacodonesis | |
| Abnormality of the trabecular meshwork | |
| Pigment deposition in the trabecular meshwork | |
| Abnormal intraocular pressure | |
| Asymmetry of intraocular pressure | |
| Iris pigment dispersion | |
| Iris hypoperfusion | |
| Retinal vein occlusion | |
| Renal calcium wasting | |
| Abnormality of nervous system physiology | |
| Abnormality of nervous system morphology | |
| Abnormality of intracranial pressure | |
| Decreased intracranial pressure | |
| Cerebellar agenesis | |
| Foveal hypopigmentation | |
| Increased caudate lactate level | |
| Enlarged peripheral nerve | |
| Retractile testis | |
| Abnormal inflammatory response | |
| Decreased inflammatory response | |
| Increased inflammatory response | |
| Perisylvian polymicrogyria | |
| Abasia | |
| Exercise-induced asthma | |
| Status Asthmaticus | |
| Abnormal CSF dopamine level | |
| Elevated CSF dopamine level | |
| Reduced CSF dopamine level | |
| Abnormal brain positron emission tomography | |
| Abnormal brain FDG positron emission tomography | |
| Prefrontal hypometabolism in FDG PET | |
| Thalamic hypometabolism in FDG PET | |
| Hypothalamic hypometabolism in FDG PET | |
| Parietal hypometabolism in FDG PET | |
| Mildly reduced ejection fraction | |
| Reduced ejection fraction | |
| Moderately reduced ejection fraction | |
| Severely reduced ejection fraction | |
| Regional left ventricular wall motion abnormality | |
| Vasovagal syncope | |
| Carotid sinus syncope | |
| Orthostatic syncope | |
| Abulia | |
| Akinetic mutism | |
| Aplasia of the upper vagina | |
| Aplasia of the lower vagina | |
| Iron accumulation in brain | |
| Copper accumulation in brain | |
| Iron accumulation in globus pallidus | |
| Iron accumulation in substantia nigra | |
| Widened interpedicular distance | |
| Abnormality of the pineal gland | |
| Abnormality of pineal morphology | |
| Pineal gland calcification | |
| Pineal cyst | |
| Abnormal pineal volume | |
| Decreased pineal volume | |
| Increased pineal volume | |
| Agenesis of pineal gland | |
| Abnormality of pineal physiology | |
| Abnormal pineal melatonin secretion | |
| T2 hypointense thalamus | |
| Focal T2 hypointense thalamic lesion | |
| Focal T2 hyperintense thalamic lesion | |
| Abnormal thalamic size | |
| Enlarged thalamic volume | |
| Decreased thalamic volume | |
| Abnormal thalamic MRI signal intensity | |
| Small basal ganglia | |
| Cerebellar gliosis | |
| Anomaly of lower limb diaphyses | |
| Abnormal large intestine physiology | |
| Bowel urgency | |
| Tenesmus | |
| Abnormality of the subarachnoid space | |
| Widened subarachnoid space | |
| Abnormal metabolic brain imaging by MRS | |
| Elevated brain choline level by MRS | |
| Elevated brain lactate level by MRS | |
| Reduced brain N-acetyl aspartate level by MRS | |
| Abnormal brain choline/creatine ratio by MRS | |
| Ingrown nail | |
| Delayed ossification of vertebral epiphysis | |
| Mild hearing impairment | |
| Moderate hearing impairment | |
| Severe hearing impairment | |
| Profound hearing impairment | |
| Moderate conductive hearing impairment | |
| Severe conductive hearing impairment | |
| Morphological abnormality of the gastrointestinal tract | |
| Functional abnormality of the gastrointestinal tract | |
| Neoplasm of the nose | |
| Venous malformation | |
| Heart block | |
| Sinoatrial block | |
| Upper eyelid edema | |
| Cutaneous syndactyly | |
| Episodic hypokalemia | |
| Thoracic aortic aneurysm | |
| Fusiform descending thoracic aortic aneurysm | |
| Saccular descending thoracic aortic aneurysm | |
| Aglossia | |
| Ectopic anterior pituitary gland | |
| Anorectal anomaly | |
| Macule | |
| Ketotic hypoglycemia | |
| Cough | |
| Profound global developmental delay | |
| Small intestinal polyp | |
| Agenesis of canine | |
| Agenesis of the small intestine | |
| Papilloma | |
| Unilateral cryptorchidism | |
| Thin fingernail | |
| Abdominal obesity | |
| Femoral aplasia | |
| Short palpebral fissure | |
| Thin toenail | |
| Abnormal brainstem MRI signal intensity | |
| Focal T2 hyperintense brainstem lesion | |
| Focal T2 hypointense brainstem lesion | |
| T2 hypointense brainstem | |
| Abnormal basal ganglia MRI signal intensity | |
| Focal T2 hypointense basal ganglia lesion | |
| T2 hypointense basal ganglia | |
| CNS hypermyelination | |
| Enlarged brainstem | |
| CSF polymorphonuclear pleocytosis | |
| Abnormal neuron morphology | |
| Neurodevelopmental delay | |
| Neurodevelopmental abnormality | |
| Impaired social reciprocity | |
| Absent mastoid | |
| Cerebral white matter atrophy | |
| Paroxysmal dyspnea | |
| Orthopnea | |
| Widened cerebellar subarachnoid space | |
| Widened cerebral subarachnoid space | |
| Abnormal placental size | |
| Neonatal asphyxia | |
| Abnormal arm span | |
| Reduced arm span | |
| Increased arm span | |
| Abnormal upper to lower segment ratio | |
| Reduced upper to lower segment ratio | |
| Increased upper to lower segment ratio | |
| Stellate iris | |
| Abnormality of the ciliary body | |
| Retinal neoplasm | |
| Retinal astrocytic hamartoma | |
| Transient hearing impairment | |
| Neoplasm of the ear | |
| Mid-frequency hearing loss | |
| Perilobar nephrogenic rest | |
| Intralobar nephrogenic rest | |
| Perinephritis | |
| Flexion contracture of finger | |
| Recurrent cystitis | |
| Recurrent pyelonephritis | |
| Reticulate pigmentation of oral mucosa | |
| Hypoplasia of the calcaneus | |
| Abnormal intramembranous ossification | |
| Abnormal humeral ossification | |
| Absent ossification of thoracic vertebral bodies | |
| Kinked brainstem | |
| Periventricular white matter hypodensities | |
| Abnormality of the optic disc | |
| Increased cup-to-disc ratio | |
| Lymphatic vessel neoplasm | |
| Pulmonary lymphangiomyomatosis | |
| Unilateral facial palsy | |
| Accessory cranial suture | |
| Narrow jaw | |
| Broad jaw | |
| Anisometropia | |
| Corneal ulceration | |
| Iris transillumination defect | |
| Proboscis | |
| High insertion of columella | |
| Abnormal nasal base | |
| Narrow nasal base | |
| Wide nasal base | |
| Wide nasal ridge | |
| Fullness of paranasal tissue | |
| Unilateral breast hypoplasia | |
| Bilateral breast hypoplasia | |
| Hypoplastic female external genitalia | |
| Right ventricular noncompaction cardiomyopathy | |
| Noncompaction cardiomyopathy | |
| Biventricular noncompaction cardiomyopathy | |
| Myocarditis | |
| Biilateral vocal cord paralysis | |
| Unilateral vocal cord paresis | |
| Bilateral vocal cord paresis | |
| Clinical modifier | |
| Severity | |
| Mild | |
| Moderate | |
| Borderline | |
| Severe | |
| Profound | |
| Position | |
| Laterality | |
| Bilateral | |
| Unilateral | |
| Right | |
| Left | |
| Spatial pattern | |
| Generalized | |
| Localized | |
| Distal | |
| Proximal | |
| Retinal vascular tortuosity | |
| Skin adnexal neoplasm | |
| Hair follicle neoplasm | |
| Trichilemmoma | |
| Single trichilemmoma | |
| Multiple trichilemmomata | |
| Epilepsia partialis continua | |
| Small intestinal stenosis | |
| Small intestinal bleeding | |
| Small intestinal dysmotility | |
| Colonic stenosis | |
| Hepatic bridging fibrosis | |
| Scrotal hypospadias | |
| Midshaft hypospadias | |
| Scrotal hyperpgimentation | |
| Abnormal scrotal rugation | |
| Increased scrotal rugation | |
| Decreased scrotal rugation | |
| Esophageal leukoplakia | |
| Testicular fibrosis | |
| Ovotestis | |
| Abnormal germ cell morphology | |
| Abnormal male germ cell morphology | |
| Abnormal sperm morphology | |
| Sperm head anomaly | |
| Sperm neck anomaly | |
| Sperm mid-piece anomaly | |
| Sperm tail anomaly | |
| Acephalic spermatozoa | |
| Vanishing testis | |
| Varicocele | |
| Abnormal vas deferens morphology | |
| Absent vas deferens | |
| Abnormal male reproductive system physiology | |
| Abnormal ejaculation | |
| Premature ejaculation | |
| Retrograde ejaculation | |
| Retarded ejaculation | |
| Anejaculation | |
| Abnormality of the labia minora | |
| Abnormality of the labia majora | |
| Hyperplastic labia majora | |
| Fallopian tube cyst | |
| Fallopian tube torsion | |
| Fallopian tube duplication | |
| Hemorrhagic ovarian cyst | |
| Ovarian serous cystadenoma | |
| Abnormality of the uterine cervix | |
| Cervical endometriosis | |
| Posteriorly placed anus | |
| High posterior hairline | |
| Facial muscle hypertrophy | |
| Neck muscle hypertrophy | |
| Paraspinal muscle hypertrophy | |
| Scapular muscle hypertrophy | |
| Abnormal motor evoked potentials | |
| Abnormal upper-limb motor evoked potentials | |
| Abnormal lower-limb motor evoked potentials | |
| Handgrip myotonia | |
| Myotonia of the face | |
| Myotonia of the jaw | |
| Myotonia of the lower limb | |
| Myotonia of the upper limb | |
| Cold-sensitive myotonia | |
| Euryblepharon | |
| EMG | |
| Lagopthalmos | |
| Nocturnal lagophthalmos | |
| Paralytic lagophthalmos | |
| Cicatricial lagophthalmos | |
| Capillary leak | |
| Single fiber EMG abnormality | |
| EMG | |
| Cervical agenesis | |
| Cervical insufficiency | |
| Hydrometrocolpos | |
| Imperforate hymen | |
| Abnormal female reproductive system physiology | |
| obsolete Endometriosis | |
| Female sexual dysfunction | |
| Female anorgasmia | |
| Dyspareunia | |
| Vaginismus | |
| Decreased female libido | |
| Increased female libido | |
| Auricular tag | |
| Question mark ear | |
| Quelprud Nodule | |
| Pretragal ectopia | |
| Auricular pit | |
| Squared superior portion of helix | |
| Abnormality of the nasal cartilage | |
| Absent nasal cartilage | |
| Splayed fingers | |
| Absent ray | |
| Small toe | |
| Partial absence of foot | |
| Small finger | |
| Diffuse glomerular basement membrane lamellation | |
| Struvite nephrolithiasis | |
| Isothenuria | |
| Bifid ureter | |
| Enchondroma | |
| Fused thoracic vertebrae | |
| Fused lumbar vertebrae | |
| Schmorl's node | |
| Incomplete ossification of pubis | |
| Hip Subluxation | |
| Flexion contracture of digit | |
| Serpentine fibula | |
| Hypoglycosylation of alpha-dystroglycan | |
| Abnormality of lateral ventricle | |
| Colpocephaly | |
| Brain abscess | |
| Narcolepsy | |
| Tip-toe gait | |
| Inguinal freckling | |
| Stiff skin | |
| Perifollicular fibrosis | |
| Hyperconvex toenail | |
| Uncombable hair | |
| Autoimmune antibody positivity | |
| Sickled erythrocytes | |
| Mitochondrial depletion | |
| Nervous tissue neoplasm | |
| Neuroectodermal neoplasm | |
| Craniopharyngioma | |
| Neuroepithelial neoplasm | |
| Neurocytoma | |
| Primitive neuroectodermal tumor | |
| Ependymoblastoma | |
| Peripheral primitive neuroectodermal neoplasm | |
| Olfactory esthesioneuroblastoma | |
| Primary central nervous system lymphoma | |
| Central primitive neuroectodermal tumor | |
| Medulloepithelioma | |
| Paranasal sinus neoplasm | |
| obsolete Pharyngeal neoplasm | |
| Chemodectoma | |
| Ductal carcinoma in situ | |
| Lobular carcinoma in situ | |
| Bronchial neoplasm | |
| Lung adenocarcinoma | |
| Cervix cancer | |
| Burkitt lymphoma | |
| Punctate periventricular T2 hyperintense foci | |
| Abnormal drinking behavior | |
| Salt craving | |
| Clinodactyly | |
| Abnormal CSF lactate level | |
| Reduced CSF lactate | |
| Abnormal testosterone level | |
| Increased testosterone | |
| Abnormal muscle fiber protein expression | |
| Abnormal muscle fiber merosin expression | |
| Absent muscle fiber merosin | |
| Reduced muscle fiber merosin | |
| Abnormal muscle fiber laminin beta 1 | |
| Reduced muscle fiber laminin beta 1 | |
| Reduced muscle collagen VI | |
| Abnormal muscle fiber dystrophin expression | |
| Absent muscle dystrophin expression | |
| Reduced muscle dystrophin expression | |
| Reduced muscle fiber alpha dystroglycan | |
| Abnormal muscle fiber alpha sarcoglycan | |
| Absent muscle fiber alpha sarcoglycan | |
| Reduced muscle fiber alpha sarcoglycan | |
| Abnormal muscle fiber beta sarcoglycan | |
| Abnormal muscle fiber gamma sarcoglycan | |
| Abnormal muscle fiber delta sarcoglycan | |
| Absent muscle fiber beta sarcoglyan | |
| Reduced muscle fiber beta sarcoglycan | |
| Reduced muscle fiber gamma sarcoglycan | |
| Absent muscle fiber gamma sarcoglycan | |
| Absent muscle fiber delta sarcoglycan | |
| Reduced muscle fiber delta sarcoglycan | |
| Abnormal muscle fiber alpha dystroglycan | |
| Abnormal muscle fiber dysferlin | |
| Absent muscle fiber dysferlin | |
| Reduced muscle fiber dysferlin | |
| Abnormal muscle fiber emerin | |
| Absent muscle fiber emerin | |
| Reduced muscle fiber emerin | |
| Abnormal muscle fiber calpain-3 | |
| Absent muscle fiber calpain-3 | |
| Reduced muscle fiber calpain-3 | |
| Reduced muscle fiber perlecan | |
| Abnormal muscle fiber lamin A/C | |
| Reduced muscle fiber lamin A/C | |
| Sacralization of the fifth lumbar vertebra | |
| Abnormality of the endometrium | |
| Endometriosis | |
| Impaired ristocetin cofactor assay activity | |
| Impaired von Willibrand factor collagen binding activity | |
| Abnormal von Willebrand Factor multimer distribution | |
| Absence of large von Willibrand factor multimers | |
| Abnormal presence of ultra-large von Willebrand Factor multimers | |
| Total absence von Willebrand Factor multimers | |
| Absence of intermediate von Willibrand factor multimers | |
| Enhanced ristocetin cofactor assay activity | |
| Prolonged bleeding following circumcision | |
| Excessive bleeding from superficial cuts | |
| Excessive bleeding after a venipuncture | |
| Oral cavity bleeding | |
| Abnormality of the posterior hairline | |
| Abnormal bowel sounds | |
| Hyperactive bowel sounds | |
| Hypoactive bowel sounds | |
| Lack of bowel sounds | |
| Abnormal liver parenchyma morphology | |
| Truncal titubation | |
| Heart murmur | |
| Cardiogenic shock | |
| Plasmacytosis | |
| Abnormality of corneal shape | |
| Mortality/Aging | |
| Absent pigmentation of chest | |
| Aplasia of facial bones | |
| Hyperparakeratosis | |
| Small posterior fossa | |
| Flat posterior fossa | |
| Chromsome breakage | |
| Decreased mitochondrial number | |
| Increased mitochondrial number | |
| Increased activity of mitochondrial respiratory chain | |
| Prominent coccyx | |
| Protruding coccyx | |
| Clinodactyly of hallux | |
| Finger clinodactyly | |
| Radial deviation of the 5th finger | |
| Radial deviation of the thumb | |
| Clinodactyly of the 2nd finger | |
| Clinodactyly of the thumb | |
| Clinodactyly of the 3rd finger | |
| Clinodactyly of the 4th finger | |
| Chorioretinal hypopigmentation | |
| Chorioretinal hyperpigmentation | |
| Hypoplasia of the upper eyelids | |
| Aplasia/Hypoplasia of the fifth metatarsal bone | |
| Abnormality of the second metatarsal bone | |
| Abnormality of the fourth metatarsal bone | |
| Onychogryposis of fingernail | |
| obsolete Thin fingernail (obsolete) | |
| obsolete Thin toenail | |
| Onycholysis of fingernails | |
| Onycholysis of toenails | |
| Aplasia of the eccrine sweat glands | |
| Hypoplasia of the eccrine sweat glands | |
| Hypoplasia of the diaphragm | |
| Abnormality of the hemidiaphragms | |
| Abnormality of the left hemidiaphragm | |
| Abnormality of the right hemidiaphragm | |
| Aplasia of the left hemidiaphragm | |
| Macular edema | |
| Sparse upper eyelashes | |
| Abnormality of upper eyelashes | |
| Abnormality of lower eyelashes | |
| Long lower eyelashes | |
| Short upper eyelashes | |
| Short lower eyelashes | |
| Absent upper eyelashes | |
| Abnormality of nasal hair | |
| Calcification of ribs | |
| Osteosclerosis of the radius | |
| Slender radius | |
| Decreased adipose tissue | |
| Abnormality of limbs | |
| Abnormal morphology of bones of the upper limbs | |
| Abnormal morphology of bones of the lower limbs | |
| Abnormality of limb bone | |
| Abnormality of lower limb bone | |
| Abnormality of upper limb bone | |
| Abnormal morphology of ulna | |
| Abnormality of forearm bone | |
| Abnormal morphology of forearm bone | |
| Abnormal ossification of the trapezium | |
| Absent ossification of the trapezium | |
| Abnormal ossification of the scaphoid | |
| Abnormal ossification of the trapezoid bone | |
| Abnormality of neural tube closure | |
| Aplasia of lymphatic vessels | |
| Abnormality of the substantia nigra | |
| Abnormal shape of the radius | |
| Abnormal morphology of the radius | |
| Abnormality of peripheral nerves | |
| Decreased urine bicarbonate concentration | |
| Decreased urinary catecholamine concentration | |
| Decreased urinary glucose concentration | |
| Hypolipidemia | |
| Elevated serum long-chain fatty acids | |
| Congenital malformation of the left heart | |
| Partial duplication of eyebrows | |
| Early onset of sexual maturation | |
| Malignant mesothelioma | |
| Pleural mesothelioma | |
| Peritoneal mesothelioma | |
| Pericardial mesothelioma | |
| Testicular mesothelioma | |
| Neoplasm of the central nervous system | |
| Neoplasm of the peripheral nervous system | |
| Schwannoma | |
| Intracranial meningioma | |
| Spinal meningioma | |
| Scleral schwannoma | |
| Neoplasm of the eye | |
| Neoplasm of the breast | |
| Epiretinal membrane | |
| Stahl ear | |
| Abnormality of the mesentery | |
| Capsular cataract | |
| Nuclear cataract | |
| Cortical cataract | |
| Posterior capsular cataract | |
| Cerebral palsy | |
| Abnormality of movement | |
| Recurrent hand flapping | |
| Conspicuously happy disposition | |
| Overfriendliness | |
| Arteriovenous malformation | |
| Recurrent pancreatitis | |
| Ectopic thyroid | |
| Lingual thyroid | |
| Accessory ectopic thyroid tissue | |
| Neoplasm of the thyroid gland | |
| Tics | |
| Motor tics | |
| Phonic tics | |
| Pseudo-fractures | |
| Abnormality of the scalp hair | |
| Slow-growing scalp hair | |
| Thickened cortex of bones | |
| Broad 2nd toe | |
| Broad 3rd toe | |
| Broad 4th toe | |
| Broad 5th toe | |
| Absent epiphyses of the 2nd toe | |
| Bracket epiphyses of the 2nd toe | |
| Cone-shaped epiphyses of the 2nd toe | |
| Enlarged epiphyses of the 2nd toe | |
| Fragmentation of the epiphyses of the 2nd toe | |
| Irregular epiphyses of the 2nd toe | |
| Ivory epiphyses of the 2nd toe | |
| Pseudoepiphyses of the 2nd toe | |
| Small epiphyses of the 2nd toe | |
| Stippling of the epiphyses of the 2nd toe | |
| Triangular epiphyses of the 2nd toe | |
| Absent epiphyses of the 3rd toe | |
| Bracket epiphyses of the 3rd toe | |
| Cone-shaped epiphyses of the 3rd toe | |
| Enlarged epiphyses of the 3rd toe | |
| Fragmentation of the epiphyses of the 3rd toe | |
| Irregular epiphyses of the 3rd toe | |
| Ivory epiphyses of the 3rd toe | |
| Pseudoepiphyses of the 3rd toe | |
| Small epiphyses of the 3rd toe | |
| Stippling of the epiphyses of the 3rd toe | |
| Triangular epiphyses of the 3rd toe | |
| Absent epiphyses of the 4th toe | |
| Bracket epiphyses of the 4th toe | |
| Cone-shaped epiphyses of the 4th toe | |
| Enlarged epiphyses of the 4th toe | |
| Fragmentation of the epiphyses of the 4th toe | |
| Irregular epiphyses of the 4th toe | |
| Ivory epiphyses of the 4th toe | |
| Pseudoepiphyses of the 4th toe | |
| Small epiphyses of the 4th toe | |
| Stippling of the epiphyses of the 4th toe | |
| Triangular epiphyses of the 4th toe | |
| Absent epiphyses of the 5th toe | |
| Bracket epiphyses of the 5th toe | |
| Cone-shaped epiphyses of the 5th toe | |
| Enlarged epiphyses of the 5th toe | |
| Fragmentation of the epiphyses of the 5th toe | |
| Irregular epiphyses of the 5th toe | |
| Ivory epiphyses of the 5th toe | |
| Pseudoepiphyses of the 5th toe | |
| Small epiphyses of the 5th toe | |
| Stippling of the epiphyses of the 5th toe | |
| Triangular epiphyses of the 5th toe | |
| Abnormality of the epiphysis of the distal phalanx of the 2nd toe | |
| Abnormality of the epiphysis of the middle phalanx of the 2nd toe | |
| Abnormality of the epiphysis of the proximal phalanx of the 2nd toe | |
| Abnormality of the epiphysis of the distal phalanx of the 3rd toe | |
| Abnormality of the epiphysis of the middle phalanx of the 3rd toe | |
| Abnormality of the epiphysis of the proximal phalanx of the 3rd toe | |
| Abnormality of the epiphysis of the distal phalanx of the 4th toe | |
| Abnormality of the epiphysis of the middle phalanx of the 4th toe | |
| Abnormality of the epiphysis of the proximal phalanx of the 4th toe | |
| Abnormality of the epiphysis of the distal phalanx of the 5th toe | |
| Abnormality of the epiphysis of the middle phalanx of the 5th toe | |
| Abnormality of the epiphysis of the proximal phalanx of the 5th toe | |
| Absent epiphysis of the distal phalanx of the 2nd toe | |
| Bracket epiphysis of the distal phalanx of the 2nd toe | |
| Cone-shaped epiphysis of the distal phalanx of the 2nd toe | |
| Enlarged epiphysis of the distal phalanx of the 2nd toe | |
| Fragmentation of the epiphysis of the distal phalanx of the 2nd toe | |
| Irregular epiphysis of the distal phalanx of the 2nd toe | |
| Ivory epiphysis of the distal phalanx of the 2nd toe | |
| Pseudoepiphysis of the distal phalanx of the 2nd toe | |
| Small epiphysis of the distal phalanx of the 2nd toe | |
| Stippling of the epiphysis of the distal phalanx of the 2nd toe | |
| Triangular epiphysis of the distal phalanx of the 2nd toe | |
| Absent epiphysis of the middle phalanx of the 2nd toe | |
| Bracket epiphysis of the middle phalanx of the 2nd toe | |
| Cone-shaped epiphysis of the middle phalanx of the 2nd toe | |
| Enlarged epiphysis of the middle phalanx of the 2nd toe | |
| Fragmentation of the epiphysis of the middle phalanx of the 2nd toe | |
| Irregular epiphysis of the middle phalanx of the 2nd toe | |
| Ivory epiphysis of the middle phalanx of the 2nd toe | |
| Pseudoepiphysis of the middle phalanx of the 2nd toe | |
| Small epiphysis of the middle phalanx of the 2nd toe | |
| Stippling of the epiphysis of the middle phalanx of the 2nd toe | |
| Triangular epiphysis of the middle phalanx of the 2nd toe | |
| Absent epiphysis of the proximal phalanx of the 2nd toe | |
| Bracket epiphysis of the proximal phalanx of the 2nd toe | |
| Cone-shaped epiphysis of the proximal phalanx of the 2nd toe | |
| Enlarged epiphysis of the proximal phalanx of the 2nd toe | |
| Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe | |
| Irregular epiphysis of the proximal phalanx of the 2nd toe | |
| Ivory epiphysis of the proximal phalanx of the 2nd toe | |
| Pseudoepiphysis of the proximal phalanx of the 2nd toe | |
| Small epiphysis of the proximal phalanx of the 2nd toe | |
| Stippling of the epiphysis of the proximal phalanx of the 2nd toe | |
| Triangular epiphysis of the proximal phalanx of the 2nd toe | |
| Abnormality of the pubic hair | |
| Abnormality of the axillary hair | |
| Absent epiphysis of the distal phalanx of the 3rd toe | |
| Bracket epiphysis of the distal phalanx of the 3rd toe | |
| Cone-shaped epiphysis of the distal phalanx of the 3rd toe | |
| Enlarged epiphysis of the distal phalanx of the 3rd toe | |
| Fragmentation of the epiphysis of the distal phalanx of the 3rd toe | |
| Irregular epiphysis of the distal phalanx of the 3rd toe | |
| Ivory epiphysis of the distal phalanx of the 3rd toe | |
| Pseudoepiphysis of the distal phalanx of the 3rd toe | |
| Small epiphysis of the distal phalanx of the 3rd toe | |
| Stippling of the epiphysis of the distal phalanx of the 3rd toe | |
| Triangular epiphysis of the distal phalanx of the 3rd toe | |
| Absent epiphysis of the middle phalanx of the 3rd toe | |
| Bracket epiphysis of the middle phalanx of the 3rd toe | |
| Cone-shaped epiphysis of the middle phalanx of the 3rd toe | |
| Enlarged epiphysis of the middle phalanx of the 3rd toe | |
| Fragmentation of the epiphysis of the middle phalanx of the 3rd toe | |
| Irregular epiphysis of the middle phalanx of the 3rd toe | |
| Ivory epiphysis of the middle phalanx of the 3rd toe | |
| Pseudoepiphysis of the middle phalanx of the 3rd toe | |
| Small epiphysis of the middle phalanx of the 3rd toe | |
| Stippling of the epiphysis of the middle phalanx of the 3rd toe | |
| Triangular epiphysis of the middle phalanx of the 3rd toe | |
| Absent epiphysis of the proximal phalanx of the 3rd toe | |
| Bracket epiphysis of the proximal phalanx of the 3rd toe | |
| Cone-shaped epiphysis of the proximal phalanx of the 3rd toe | |
| Enlarged epiphysis of the proximal phalanx of the 3rd toe | |
| Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe | |
| Irregular epiphysis of the proximal phalanx of the 3rd toe | |
| Ivory epiphysis of the proximal phalanx of the 3rd toe | |
| Pseudoepiphysis of the proximal phalanx of the 3rd toe | |
| Small epiphysis of the proximal phalanx of the 3rd toe | |
| Stippling of the epiphysis of the proximal phalanx of the 3rd toe | |
| Triangular epiphysis of the proximal phalanx of the 3rd toe | |
| Fragmented epiphyses | |
| Absent epiphysis of the distal phalanx of the 4th toe | |
| Bracket epiphysis of the distal phalanx of the 4th toe | |
| Cone-shaped epiphysis of the distal phalanx of the 4th toe | |
| Enlarged epiphysis of the distal phalanx of the 4th toe | |
| Fragmentation of the epiphysis of the distal phalanx of the 4th toe | |
| Irregular epiphysis of the distal phalanx of the 4th toe | |
| Ivory epiphysis of the distal phalanx of the 4th toe | |
| Pseudoepiphysis of the distal phalanx of the 4th toe | |
| Small epiphysis of the distal phalanx of the 4th toe | |
| Stippling of the epiphysis of the distal phalanx of the 4th toe | |
| Triangular epiphysis of the distal phalanx of the 4th toe | |
| Absent epiphysis of the middle phalanx of the 4th toe | |
| Bracket epiphysis of the middle phalanx of the 4th toe | |
| Cone-shaped epiphysis of the middle phalanx of the 4th toe | |
| Enlarged epiphysis of the middle phalanx of the 4th toe | |
| Fragmentation of the epiphysis of the middle phalanx of the 4th toe | |
| Irregular epiphysis of the middle phalanx of the 4th toe | |
| Ivory epiphysis of the middle phalanx of the 4th toe | |
| Pseudoepiphysis of the middle phalanx of the 4th toe | |
| Small epiphysis of the middle phalanx of the 4th toe | |
| Stippling of the epiphysis of the middle phalanx of the 4th toe | |
| Triangular epiphysis of the middle phalanx of the 4th toe | |
| Absent epiphysis of the proximal phalanx of the 4th toe | |
| Bracket epiphysis of the proximal phalanx of the 4th toe | |
| Cone-shaped epiphysis of the proximal phalanx of the 4th toe | |
| Enlarged epiphysis of the proximal phalanx of the 4th toe | |
| Fragmentation of the epiphysis of the proximal phalanx of the 4th toe | |
| Irregular epiphysis of the proximal phalanx of the 4th toe | |
| Ivory epiphysis of the proximal phalanx of the 4th toe | |
| Pseudoepiphysis of the proximal phalanx of the 4th toe | |
| Small epiphysis of the proximal phalanx of the 4th toe | |
| Stippling of the epiphysis of the proximal phalanx of the 4th toe | |
| Triangular epiphysis of the proximal phalanx of the 4th toe | |
| Absent epiphysis of the distal phalanx of the 5th toe | |
| Bracket epiphysis of the distal phalanx of the 5th toe | |
| Cone-shaped epiphysis of the distal phalanx of the 5th toe | |
| Enlarged epiphysis of the distal phalanx of the 5th toe | |
| Fragmentation of the epiphysis of the distal phalanx of the 5th toe | |
| Irregular epiphysis of the distal phalanx of the 5th toe | |
| Ivory epiphysis of the distal phalanx of the 5th toe | |
| Pseudoepiphysis of the distal phalanx of the 5th toe | |
| Small epiphysis of the distal phalanx of the 5th toe | |
| Stippling of the epiphysis of the distal phalanx of the 5th toe | |
| Triangular epiphysis of the distal phalanx of the 5th toe | |
| Absent epiphysis of the middle phalanx of the 5th toe | |
| Bracket epiphysis of the middle phalanx of the 5th toe | |
| Cone-shaped epiphysis of the middle phalanx of the 5th toe | |
| Enlarged epiphysis of the middle phalanx of the 5th toe | |
| Fragmentation of the epiphysis of the middle phalanx of the 5th toe | |
| Irregular epiphysis of the middle phalanx of the 5th toe | |
| Ivory epiphysis of the middle phalanx of the 5th toe | |
| Pseudoepiphysis of the middle phalanx of the 5th toe | |
| Small epiphysis of the middle phalanx of the 5th toe | |
| Stippling of the epiphysis of the middle phalanx of the 5th toe | |
| Triangular epiphysis of the middle phalanx of the 5th toe | |
| Absent epiphysis of the proximal phalanx of the 5th toe | |
| Bracket epiphysis of the proximal phalanx of the 5th toe | |
| Cone-shaped epiphysis of the proximal phalanx of the 5th toe | |
| Enlarged epiphysis of the proximal phalanx of the 5th toe | |
| Fragmentation of the epiphysis of the proximal phalanx of the 5th toe | |
| Irregular epiphysis of the proximal phalanx of the 5th toe | |
| Ivory epiphysis of the proximal phalanx of the 5th toe | |
| Pseudoepiphysis of the proximal phalanx of the 5th toe | |
| Small epiphysis of the proximal phalanx of the 5th toe | |
| Stippling of the epiphysis of the proximal phalanx of the 5th toe | |
| Triangular epiphysis of the proximal phalanx of the 5th toe | |
| Synostosis involving bones of the toes | |
| Proximal symphalangism (feet) | |
| Synostosis involving bones of the upper limbs | |
| Synostosis of joints | |
| Ectopic respiratory mucosa | |
| Sarcoma | |
| Leiomyosarcoma | |
| Fibrosarcoma | |
| Desmoid tumors | |
| Osteoma | |
| Recurrent singultus | |
| Hemiballismus | |
| Calcification of muscles | |
| Meningeal calcification | |
| Lipomas of the central neryous system | |
| Diaphyseal dysplasia | |
| Abnormality of the medullary cavity of the long bones | |
| Stenosis of the medullary cavity of the long bones | |
| Metaphyseal dysplasia | |
| Senile plaques | |
| Ectrodactyly | |
| Preaxial polydactyly | |
| Postaxial polydactyly | |
| Mesoaxial polydactyly | |
| Abnormal tendon morphology | |
| Synostosis involving digits | |
| Distal symphalangism | |
| Proximal symphalangism | |
| Synostosis of metacarpals/metatarsals | |
| Synostosis of carpals/tarsals | |
| Lip pit | |
| Upper lip pit | |
| Paramedian lip pit | |
| Abnormality of dorsoventral patterning of the limbs | |
| Hyponasal speech | |
| Branchial sinus | |
| Neoplasm of the colon | |
| Gustatory lacrimation | |
| Diffuse cerebellar atrophy | |
| Skin pits | |
| Periauricular skin pits | |
| Ulcerative colitis | |
| Crohn's disease | |
| Chronic colitis | |
| Acute colitis | |
| EMG | |
| EMG | |
| EMG | |
| EMG | |
| EMG | |
| Abnormality of pattern reversal visual evoked potentials | |
| Abnormality of peripheral somatosensory evoked potentials | |
| Abnormality of central somatosensory evoked potentials | |
| Amyloidosis of peripheral nerves | |
| Muscle fiber hypertrophy | |
| Muscle fiber atrophy | |
| Perifascicular muscle fiber atrophy | |
| Increased endomysial connective tissue | |
| Motheaten muscle fibers | |
| Muscle fiber inclusion bodies | |
| Desmin bodies | |
| Muscle fiber tubular inclusions | |
| Muscle fiber tubuloreticular inclusions | |
| Muscle fiber cytoplasmatic inclusion bodies | |
| Muscle fiber intranuclear inclusion bodies | |
| Ring fibers | |
| Muscle fiber hyaline bodies | |
| Cerebellar hemisphere hypoplasia | |
| Cerebral cortical hemiatrophy | |
| Subdural hemorrhage | |
| Epidural hemorrhage | |
| Cerebral ventricular adhesions | |
| Cerebral germinoma | |
| Cerebral granulomatosis | |
| Cerebral inclusion bodies | |
| Lewy bodies | |
| Hirano bodies | |
| Agyrophilic inclusion bodies | |
| Lafora bodies | |
| Cerebral hyaline bodies | |
| Rosenthal fibres | |
| Abnormality of the dentate nucleus | |
| Aplasia of the pyramidal tract | |
| Juvenile aseptic necrosis | |
| Scleroderma | |
| Immunologic hypersensitivity | |
| Cow milk allergy | |
| Carpometacarpal synostosis | |
| Tarsometatarsal synostosis | |
| Unilateral cleft lip | |
| Unilateral cleft palate | |
| Non-midline cleft lip | |
| Bilateral cleft lip | |
| Bilateral cleft palate | |
| Non-midline cleft palate | |
| Abnormality of the os naviculare pedis | |
| Fibular deviation of the 4th toe | |
| Tibial deviation of the 4th toe | |
| Fibular deviation of the 3rd toe | |
| Tibial deviation of the 3rd toe | |
| Fibular deviation of the 2nd toe | |
| Tibial deviation of the 2nd toe | |
| Fibular deviation of the 5th toe | |
| Tibial deviation of the 5th toe | |
| Contracture of the proximal interphalangeal joint of the 2nd toe | |
| Contracture of the proximal interphalangeal joint of the 3rd toe | |
| Contracture of the proximal interphalangeal joint of the 4th toe | |
| Contractures of the proximal interphalangeal joint of the 5th toe | |
| Contracture of the distal interphalangeal joint of the 2nd toe | |
| Contracture of the distal interphalangeal joint of the 3rd toe | |
| Contracture of the distal interphalangeal joint of the 4th toe | |
| Contractures of the distal interphalangeal joint of the 5th toe | |
| Contracture of the metatarsophalangeal joint of the 2nd toe | |
| Contracture of the metatarsophalangeal joint of the 3rd toe | |
| Contracture of the metatarsophalangeal joint of the 4th toe | |
| Contracture of the metatarsophalangeal joint of the 5th toe | |
| Contractures of the joints of the upper limbs | |
| Aplasia of the phalanges of the 3rd toe | |
| Aplasia of the phalanges of the 4th toe | |
| Aplasia of the phalanges of the 5th toe | |
| Short phalanx of the 3rd toe | |
| Short phalanx of the 4th toe | |
| Short phalanx of the 5th toe | |
| Aplasia/Hypoplasia of the distal phalanx of the 3rd toe | |
| Aplasia/Hypoplasia of the distal phalanx of the 4th toe | |
| Aplasia/Hypoplasia of the distal phalanx of the 5th toe | |
| Aplasia/Hypoplasia of the middle phalanx of the 3rd toe | |
| Aplasia/Hypoplasia of the middle phalanx of the 4th toe | |
| Aplasia/Hypoplasia of the middle phalanx of the 5th toe | |
| Aplasia/hypoplasia of the proximal phalanx of the 3rd toe | |
| Aplasia/hypoplasia of the proximal phalanx of the 4th toe | |
| Aplasia/hypoplasia of the proximal phalanx of the 5th toe | |
| Absent distal phalanx of the 3rd toe | |
| Aplasia of the distal phalanx of the 4th toe | |
| Aplasia of the distal phalanx of the 5th toe | |
| Absent middle phalanx of the 3rd toe | |
| Aplasia of the middle phalanx of the 4th toe | |
| Aplasia of the middle phalanx of the 5th toe | |
| Absent proximal phalanx of the 3rd toe | |
| Aplasia of the proximal phalanx of the 4th toe | |
| Aplasia of the proximal phalanx of the 5th toe | |
| Aplasia of the middle phalanges of the toes | |
| Aplasia of the proximal phalanges of the toes | |
| Short distal phalanx of the 3rd toe | |
| Short distal phalanx of the 4th toe | |
| Short distal phalanx of the 5th toe | |
| Short middle phalanx of the 3rd toe | |
| Short middle phalanx of the 4th toe | |
| Short middle phalanx of the 5th toe | |
| Short proximal phalanx of the 3rd toe | |
| Short proximal phalanx of the 4th toe | |
| Short proximal phalanx of the 5th toe | |
| Duplication of the distal phalanx of the 3rd toe | |
| Duplication of the distal phalanx of the 4th toe | |
| Duplication of the distal phalanx of the 5th toe | |
| Duplication of the middle phalanx of the 3rd toe | |
| Duplication of the middle phalanx of the 4th toe | |
| Duplication of the middle phalanx of the 5th toe | |
| Duplication of the proximal phalanx of the 3rd toe | |
| Duplication of the proximal phalanx of the 4th toe | |
| Duplication of the proximal phalanx of the 5th toe | |
| Complete duplication of the distal phalanx of the 3rd toe | |
| Complete duplication of the distal phalanx of the 4th toe | |
| Complete duplication of the distal phalanx of the 5th toe | |
| Complete duplication of the middle phalanx of the 3rd toe | |
| Complete duplication of the middle phalanx of the 4th toe | |
| Complete duplication of the middle phalanx of the 5th toe | |
| Complete duplication of the proximal phalanx of the 3rd toe | |
| Complete duplication of the proximal phalanx of the 4th toe | |
| Complete duplication of the proximal phalanx of the 5th toe | |
| Partial duplication of the distal phalanx of the 3rd toe | |
| Partial duplication of the distal phalanx of the 4th toe | |
| Partial duplication of the distal phalanx of the 5th toe | |
| Partial duplication of the middle phalanx of the 3rd toe | |
| Partial duplication of the middle phalanx of the 4th toe | |
| Partial duplication of the middle phalanx of the 5th toe | |
| Partial duplication of the proximal phalanx of the 3rd toe | |
| Partial duplication of the proximal phalanx of the 4th toe | |
| Partial duplication of the proximal phalanx of the 5th toe | |
| Broad middle phalanx of the 3rd toe | |
| Broad middle phalanx of the 4th toe | |
| Broad middle phalanx of the 5th toe | |
| Broad proximal phalanx of the 3rd toe | |
| Broad proximal phalanx of the 4th toe | |
| Broad proximal phalanx of the 5th toe | |
| Broad distal phalanx of the 3rd toe | |
| Broad distal phalanx of the 4th toe | |
| Broad distal phalanx of the 5th toe | |
| Bullet-shaped middle phalanx of the 3rd toe | |
| Bullet-shaped middle phalanx of the 4th toe | |
| Bullet-shaped middle phalanx of the 5th toe | |
| Bullet-shaped proximal phalanx of the 3rd toe | |
| Bullet-shaped proximal phalanx of the 4th toe | |
| Bullet-shaped proximal phalanx of the 5th toe | |
| Bullet-shaped distal phalanx of the 3rd toe | |
| Bullet-shaped distal phalanx of the 4th toe | |
| Bullet-shaped distal phalanx of the 5th toe | |
| Curved middle phalanx of the 3rd toe | |
| Curved middle phalanx of the 4th toe | |
| Curved middle phalanx of the 5th toe | |
| Curved proximal phalanx of the 3rd toe | |
| Curved proximal phalanx of the 4th toe | |
| Curved proximal phalanx of the 5th toe | |
| Curved distal phalanx of the 3rd toe | |
| Curved distal phalanx of the 4th toe | |
| Curved distal phalanx of the 5th toe | |
| Osteolytic defects of the middle phalanx of the 3rd toe | |
| Osteolytic defects of the middle phalanx of the 4th toe | |
| Osteolytic defects of the middle phalanx of the 5th toe | |
| Osteolytic defects of the proximal phalanx of the 3rd toe | |
| Osteolytic defects of the proximal phalanx of the 4th toe | |
| Osteolytic defects of the proximal phalanx of the 5th toe | |
| Osteolytic defects of the distal phalanx of the 3rd toe | |
| Osteolytic defects of the distal phalanx of the 4th toe | |
| Osteolytic defects of the distal phalanx of the 5th toe | |
| Patchy sclerosis of the middle phalanx of the 3rd toe | |
| Patchy sclerosis of the middle phalanx of the 4th toe | |
| Patchy sclerosis of the middle phalanx of the 5th toe | |
| Patchy sclerosis of the proximal phalanx of the 3rd toe | |
| Patchy sclerosis of the proximal phalanx of the 4th toe | |
| Patchy sclerosis of the proximal phalanx of the 5th toe | |
| Patchy sclerosis of the distal phalanx of the 3rd toe | |
| Patchy sclerosis of the distal phalanx of the 4th toe | |
| Patchy sclerosis of the distal phalanx of the 5th toe | |
| Symphalangism affecting the middle phalanx of the 3rd toe | |
| Symphalangism affecting the middle phalanx of the 4th toe | |
| Symphalangism affecting the middle phalanx of the 5th toe | |
| Symphalangism affecting the proximal phalanx of the 3rd toe | |
| Symphalangism affecting the proximal phalanx of the 4th toe | |
| Symphalangism affecting the proximal phalanx of the 5th toe | |
| Symphalangism affecting the distal phalanx of the 3rd toe | |
| Symphalangism affecting the distal phalanx of the 4th toe | |
| Symphalangism affecting the distal phalanx of the 5th toe | |
| Proximal/middle symphalangism of 3rd toe | |
| Proximal/middle symphalangism of 4th toe | |
| Proximal/middle symphalangism of 5th toe | |
| Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal | |
| Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal | |
| Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal | |
| Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal | |
| Triangular shaped distal phalanx of the 5th toe | |
| Synostosis of the proximal phalanx of the hallux with the 1st metatarsal | |
| Proximal/middle symphalangism of 2nd toe | |
| Camptodactyly of finger | |
| Abnormality of the joints of the lower limbs | |
| Joint contractures involving the joints of the feet | |
| Hypoammonemia | |
| Abnormality of mast cells | |
| Mastocytosis | |
| Abnormality of the vitamin B3 metabolism | |
| Vitamin B3 deficiency | |
| Deviation of toes | |
| Tibial deviation of toes | |
| Fibular deviation of toes | |
| Recurrent bronchiolitis | |
| Vitamin B12 deficiency | |
| Vitamin B1 deficiency | |
| Vitamin B2 deficiency | |
| Vitamin B5 deficiency | |
| Vitamin B8 deficiency | |
| Folate deficiency | |
| Abnormality of vitamin metabolism | |
| Abnormality of vitamin C metabolism | |
| Vitamin C deficiency | |
| Abnormality of vitamin D metabolism | |
| Vitamin D deficiency | |
| Vitamin E deficiency | |
| Abnormality of vitamin E metabolism | |
| Pollakisuria | |
| Neoplasm of the ureter | |
| Neoplasm of the urethra | |
| Dysuria | |
| Anuria | |
| Oliguria | |
| Neoplasm of the thymus | |
| Thymoma | |
| Liver abscess | |
| Limb duplication | |
| Urachus fistula | |
| Neoplasm of the lung | |
| Neoplasia of the pleura | |
| Pleuropulmonary blastoma | |
| Abnormality of phosphate homeostasis | |
| Abnormality of calcium-phosphate metabolism | |
| Wind-swept deformity of the knees | |
| Scleritis | |
| Inflammatory abnormality of the eye | |
| Episcleritis | |
| Tibiofibular diastasis | |
| Abnormality of the fascia | |
| Fasciitis | |
| Abnormality of the supraorbital ridges | |
| Periorbital edema | |
| Palpebral edema | |
| Femoral hernia | |
| Abnormal localization of kidney | |
| Cognitive impairment | |
| Neoplasm of the heart | |
| Arterial stenosis | |
| Carotid artery stenosis | |
| Abnormality of forebrain morphology | |
| Exstrophy | |
| Tendon rupture | |
| Neoplasm of the trachea | |
| Neoplasm of the tracheobronchial system | |
| Hemihypertrophy of lower limb | |
| Hemihypertrophy of upper limb | |
| Asymmetric growth | |
| Hemiatrophy | |
| Hemiatrophy of lower limb | |
| Hemiatrophy of upper limb | |
| Lower limb asymmetry | |
| Upper limb asymmetry | |
| Spinal cord lesions | |
| Diplomyelia | |
| Diastomatomyelia | |
| Triplomyelia | |
| Hydromyelia | |
| Amyelia | |
| Neoplasm of the endocrine system | |
| Abnormal vertebral ossification | |
| Carcinoid | |
| Cardiac diverticulum | |
| Fibrous cardiac diverticulum | |
| Muscular cardiac diverticulum | |
| Biliary tract neoplasm | |
| Neoplasm of the gallbladder | |
| Amaurosis fugax | |
| Urinary bladder inflammation | |
| Lipoatrophy | |
| Mucosal telangiectasiae | |
| Barrett esophagus | |
| Megacalicosis | |
| Nasal polyposis | |
| Corneal perforation | |
| Endocarditis | |
| Teleangiectasia of the skin | |
| Aseptic leukocyturia | |
| Abnormality of the preputium | |
| Paraphimosis | |
| Urogenital fistula | |
| Rectal fistula | |
| Peritoneal abscess | |
| Calcification of cartilage | |
| Esophageal web | |
| Camptocormia | |
| Absent nares | |
| Pulmonary edema | |
| Diphallia | |
| Penoscrotal transposition | |
| Eclampsia | |
| Preeclampsia | |
| Toxemia of pregnancy | |
| Neoplasm of the lip | |
| Neoplasm of the larynx | |
| Neoplasm of the respiratory system | |
| Dysmenorrhea | |
| Metrorrhagia | |
| obsolete Hypermenorrhea | |
| Maternal hyperphenylalaninemia | |
| Multiple glomerular cysts | |
| Odontogenic neoplasm | |
| Death in early adulthood | |
| Myositis | |
| Ovarian neoplasm | |
| Testicular teratoma | |
| Testicular seminoma | |
| Leydig cell neoplasia | |
| Sertoli cell neoplasm | |
| Germinoma | |
| Dysgerminoma | |
| Maternal seizures | |
| Abnormality of corpus cavernosum | |
| Corpus cavernosum sclerosis | |
| Enlarged thorax | |
| Chronic hepatic failure | |
| Displacement of the external urethral meatus | |
| Esophageal diverticulum | |
| Midline facial cleft | |
| Neoplasia of the nasopharynx | |
| Neoplasm of the adrenal gland | |
| Pulmonary sequestration | |
| Esophagitis | |
| Neuroendocrine neoplasm | |
| Carotid paraganglioma | |
| Pulmonary paraglioma | |
| obsolete Neoplasia of the nose | |
| Neoplasia of the pharynx | |
| Erectile abnormalities | |
| Laryngeal cyst | |
| Neoplasm of the adrenal cortex | |
| Neoplasm of the adrenal medulla | |
| Abnormality of nail color | |
| Melanonychia | |
| Cystocele | |
| Thyroiditis | |
| Graves disease | |
| Neoplasm of the tongue | |
| Neoplasm of the oral cavity | |
| Vaginal neoplasm | |
| Type I diabetes mellitus | |
| Optic neuritis | |
| Retrobulbar optic neuritis | |
| Thoracoabdominal wall defects | |
| Celosomia | |
| Cellulitis | |
| Abnormality of the cerebral vasculature | |
| Dyskinesia | |
| Trigeminal neuralgia | |
| Chondritis | |
| Synotia | |
| Angioedema | |
| Intestinal duplication | |
| Abnormal pigmentation of the oral mucosa | |
| Rough bone trabeculation | |
| Abnormal trabecular bone morphology | |
| Vaginal hernia | |
| Vaginal hydrocele | |
| Vaginal hematocele | |
| Vaginal pyocele | |
| Vaginal lymphocele | |
| Vaginal varicocele | |
| Premature skin wrinkling | |
| Lack of skin elasticity | |
| Esophageal duplication | |
| Tracheal atresia | |
| Salivary gland neoplasm | |
| Abnormality of Sharpey fibers | |
| Enthesitis | |
| Polyotia | |
| Decreased corneal thickness | |
| Mosaic central corneal dystrophy | |
| Abnormality of the curvature of the cornea | |
| Increased corneal curvature | |
| Iridodonesis | |
| Tibial torsion | |
| Lipedema | |
| Neurofibrosarcoma | |
| Subcutaneous neurofibromas | |
| Scarring | |
| Abnormality of the arachnoid mater | |
| Abnormality of the pia mater | |
| Arachnoid cyst | |
| Tongue thrusting | |
| Cortical visual impairment | |
| Abnormality of the glial cells | |
| Abnormality of the oligodendroglia | |
| Abnormality of the astrocytes | |
| Abnormality of the microglia | |
| Reduction of oligodendroglia | |
| Impulsivity | |
| Abnormality of the thoracic spine | |
| Abnormality of the lumbar spine | |
| Self-injurious behavior | |
| Abnormality of the cementum | |
| Uterine rupture | |
| Lens coloboma | |
| Hypoplasia of the ear cartilage | |
| Mediastinal lymphadenopathy | |
| Gastrointestinal stroma tumor | |
| Hypercoagulability | |
| Lichenification | |
| Kaposi's sarcoma | |
| Histiocytosis | |
| Germ cell neoplasia | |
| Large face | |
| Bronchogenic cyst | |
| Transverse facial cleft | |
| Pancreatic fibrosis | |
| Neoplasm of the parathyroid gland | |
| Abnormality of the vertebral epiphyses | |
| Hypertensive crisis | |
| Abnormality of the soft palate | |
| Abnormality of the hard palate | |
| Abnormal eating behavior | |
| Bulimia | |
| Vascular neoplasm | |
| Neoplasm of the rectum | |
| Abnormality of the humeroradial joint | |
| Abnormality of the humeroulnar joint | |
| Macrodactyly of finger | |
| Macrodactyly of toe | |
| Muscular edema | |
| Chest pain | |
| Atelectasis | |
| Esophageal neoplasm | |
| Abnormal liver lobulation | |
| Schizophrenia | |
| Mania | |
| Abnormality of salivation | |
| Pancreatoblastoma | |
| Gangrene | |
| Clubbing of fingers | |
| Clubbing of toes | |
| Visceral angiomatosis | |
| Hemobilia | |
| Abnormality of the lymphatic system | |
| Lymphangioma | |
| Abnormality of the tonsils | |
| Abnormality of the lymphatic vessels | |
| Abnormality of the placenta | |
| Choriocarcinoma | |
| Synovitis | |
| Hyperperistalsis | |
| Hypoperistalsis | |
| Cartilage destruction | |
| Hyperostosis | |
| Dural ectasia | |
| Recurrent pharyngitis | |
| Exostoses | |
| Cryoglobulinemia | |
| Urogenital sinus anomaly | |
| Conjunctival hamartoma | |
| Abnormality of the sacroiliac joint | |
| Breast aplasia | |
| Peripheral arteriovenous fistula | |
| Insomnia | |
| Hypersomnia | |
| Prostate neoplasm | |
| Fused lips | |
| Torus palatinus | |
| Hernia | |
| Acantholysis | |
| Abnormally straight spine | |
| Orchitis | |
| Toenail dysplasia | |
| Fingernail dysplasia | |
| Neoplasm of the middle ear | |
| Aplasia/Hypoplasia of the pancreas | |
| Pancreatic aplasia | |
| Malposition of the stomach | |
| Abnormality of the periungual region | |
| Ungual fibroma | |
| Precocious menopause | |
| Sepsis | |
| Long fingers | |
| Gastric diverticulum | |
| Hypersensibility of scalp | |
| Pointed helix | |
| Aplasia/Hypoplasia of the colon | |
| Halitosis | |
| Testicular torsion | |
| Blue nevus | |
| Lip hyperpigmentation | |
| Renovascular hypertension | |
| Long thorax | |
| Intestinal fistula | |
| Glomerulopathy | |
| Urethrocele | |
| Rectocele | |
| Genital hernia | |
| Cheilitis | |
| Neoplasm of the nail | |
| Lymphocytosis | |
| Increase in T cell number | |
| Galactorrhea | |
| Round ear | |
| Abnormality of vitamin K metabolism | |
| Mouches volantes | |
| Neoplasm of the small intestine | |
| Neoplasm of the large intestine | |
| Benign neoplasm of the central nervous system | |
| Malignant neoplasm of the central nervous system | |
| Atrophodermia vermiculata | |
| Recurrent cutaneous abscess formation | |
| Hepatic agenesis | |
| Aplasia/Hypoplasia of the eyebrow | |
| Microgastria | |
| Septo-optic dysplasia | |
| Glioblastoma | |
| Pancreatic fistula | |
| Anaphylactic shock | |
| Palmoplantar pustules | |
| Neoplasia of the male external genitalia | |
| Neoplasia of the scrotum | |
| Neoplasia of the penis | |
| Abnormal emotion/affect behavior | |
| Abnormal fear/anxiety-related behavior | |
| Hypoplastic areola | |
| Aplasia of the musculature | |
| Triceps hypoplasia | |
| Poorly ossified vertebrae | |
| Flat sella turcica | |
| Celiac artery aneurysm | |
| Superior mesenteric artery aneurysm | |
| Inferior mesenteric artery aneurysm | |
| Vertebral body sclerosis | |
| Aplasia of the femoral head | |
| Aplasia of the femoral neck | |
| Short femoral neck | |
| Broad ischia | |
| Short iliac bones | |
| Duodenal stenosis | |
| Palmar telangiectasia | |
| Plantar telangiectasia | |
| Abnormality of the palm | |
| Abnormality of the plantar skin of foot | |
| Thick hair | |
| Hemimacroglossia | |
| Infra-orbital crease | |
| Renal diverticulum | |
| Enlarged uterus | |
| Enlarged ovaries | |
| Nephrogenic rest | |
| Congenital mesoblastic nephroma | |
| Fibrous hamartoma | |
| Chorangioma | |
| Compensatory scoliosis | |
| Lateral venous anomaly | |
| Abnormality of globe location | |
| Abnormality of globe size | |
| Interdigital loops | |
| Abnormality of the ductus choledochus | |
| Cyst of the ductus choledochus | |
| Bifid xiphoid process | |
| Abnormality of the xiphoid process | |
| Prominent xiphoid process | |
| Broad xiphoid process | |
| Rectal polyposis | |
| Connective tissue nevi | |
| Sclerosis of finger phalanx | |
| Sclerosis of the distal phalanx of the 2nd finger | |
| Sclerosis of the distal phalanx of the 3rd finger | |
| Sclerosis of the distal phalanx of the 4th finger | |
| Sclerosis of the distal phalanx of the 5th finger | |
| Sclerosis of the middle phalanx of the 2nd finger | |
| Sclerosis of the middle phalanx of the 3rd finger | |
| Sclerosis of the middle phalanx of the 4th finger | |
| Sclerosis of the middle phalanx of the 5th finger | |
| Sclerosis of the proximal phalanx of the 2nd finger | |
| Sclerosis of the proximal phalanx of the 3rd finger | |
| Sclerosis of the proximal phalanx of the 4th finger | |
| Sclerosis of the proximal phalanx of the 5th finger | |
| Sclerosis of the distal phalanx of the thumb | |
| Sclerosis of the proximal phalanx of the thumb | |
| Sclerosis of the 1st metacarpal | |
| Sclerosis of distal finger phalanx | |
| Sclerosis of middle finger phalanx | |
| Sclerosis of proximal finger phalanx | |
| Sclerosis of 2nd finger phalanx | |
| Sclerosis of 3rd finger phalanx | |
| Sclerosis of 4th finger phalanx | |
| Sclerosis of 5th finger phalanx | |
| Sclerosis of thumb phalanx | |
| Clavicular sclerosis | |
| Sclerosis of toe phalanx | |
| Sclerosis of foot bone | |
| Sclerosis of 2nd toe phalanx | |
| Sclerosis of 3rd toe phalanx | |
| Sclerosis of 4th toe phalanx | |
| Sclerosis of 5th toe phalanx | |
| Sclerosis of hallux phalanx | |
| Sclerosis of the proximal phalanx of the 2nd toe | |
| Sclerosis of the proximal phalanx of the 3rd toe | |
| Sclerosis of the proximal phalanx of the 4th toe | |
| Sclerosis of the proximal phalanx of the 5th toe | |
| Sclerosis of the middle phalanx of the 2nd toe | |
| Sclerosis of the middle phalanx of the 3rd toe | |
| Sclerosis of the middle phalanx of the 4th toe | |
| Sclerosis of the middle phalanx of the 5th toe | |
| Sclerosis of the distal phalanx of the 2nd toe | |
| Sclerosis of the distal phalanx of the 3rd toe | |
| Sclerosis of the distal phalanx of the 4th toe | |
| Sclerosis of the distal phalanx of the 5th toe | |
| Sclerosis of the proximal phalanx of the hallux | |
| Sclerosis of the distal phalanx of the hallux | |
| Sclerosis of the 1st metatarsal | |
| Sclerosis of proximal toe phalanx | |
| Sclerosis of middle toe phalanx | |
| Sclerosis of distal toe phalanx | |
| Long chain 3 hydroxyacyl coA dehydrogenase deficiency | |
| Enlarged fossa interpeduncularis | |
| Enlarged sylvian cistern | |
| Enlarged interhemispheric fissure | |
| Open operculum | |
| Giant cell granuloma of mandible | |
| Abnormality of the renal medulla | |
| Narrow foramen obturatorium | |
| Dense metaphyseal bands | |
| Asymmetric ventricles | |
| Enlarged hippocampus | |
| Shyness | |
| Hyperesthesia | |
| Dysharmonic bone age | |
| Dysharmonic accelerated bone age | |
| Splayed epiphyses | |
| Abnormal shape of the palpebral fissure | |
| Slanting of the palpebral fissure | |
| Abnormal size of the palpebral fissures | |
| Intestinal polyposis | |
| Abnormal length of corpus callosum | |
| Short corpus callosum | |
| Neoplasm of fatty tissue | |
| Symmetric great toe depigmentation | |
| Acrokeratosis | |
| Cerebral white matter agenesis | |
| Protanomaly | |
| Corneal erosion | |
| Down-sloping shoulders | |
| Choroid plexus papilloma | |
| Priapism | |
| Premature chromatid separation | |
| Mandibular pain | |
| Ocular pain | |
| Pretibial myxedema | |
| Vasculitis in the skin | |
| Punctate vasculitis skin lesions | |
| Kayser-Fleischer ring | |
| Papule | |
| Skin plaque | |
| Skin nodule | |
| skin vesicle | |
| Pustule | |
| Epidermoid cyst | |
| Skin erosion | |
| Skin ulcer | |
| Verrucae | |
| Porokeratosis | |
| Cat cry | |
| Chondritis of pinna | |
| Cyanotic episode | |
| Upper limb hypertonia | |
| Bracket metacarpal epiphyses | |
| Hemihypotrophy of lower limb | |
| Monodactyly (feet) | |
| Small hand | |
| Macular scarring | |
| Marcus Gunn pupil | |
| Angiosarcoma | |
| Metastatic angiosarcoma | |
| Colorectal polyps | |
| Asymmetry of iris pigmentation | |
| Choroidoretinal degeneration | |
| Ribbonlike corneal degeneration | |
| Recurrent spontaneous abortion | |
| Nonprogressive visual loss | |
| Peripheral retinal atrophy | |
| Peripheral vitreoretinal degeneration | |
| Episodic quadriplegia | |
| Respiratory insufficiency due to defective ciliary clearance | |
| Severe limb shortening | |
| Giant cell hepatitis | |
| Limb tremor | |
| Frontal open bite | |
| Anterior open bite | |
| Triangular-shaped open mouth | |
| Oral mucusa blisters | |
| Absent skin pigmentation | |
| Peripheral retinal pigmentation abnormalities | |
| Decreased/absent ankle reflexes | |
| Sparse or absent eyelashes | |
| Absent fifth fingernail | |
| Absent fifth toenail | |
| Absent/shortened dynein arms | |
| Shortened inner dynein arms | |
| Shortened outer dynein arms | |
| Absent/shortened outer dynein arms | |
| Absent stapes head | |
| Aphalangy of hands and feet | |
| Metabolic alkalosis | |
| Scalp hair loss | |
| Distal ileal atresia | |
| Recurrent upper and lower respiratory tract infections | |
| Malabsorption of Vitamin B12 | |
| Acute hepatitis | |
| Chronic active hepatitis | |
| Atypical or prolonged hepatitis | |
| Chronic hepatitis | |
| Chronic hepatitis due to cryptospridium infection | |
| Mitochondrial respiratory chain defects | |
| Amyolid cardiomyopathy | |
| Atrial cardiomyopathy | |
| Biventricular hypertrophy | |
| Calcific mitral stenosis | |
| Congestive cardiomyopathy | |
| Lumbosacral meningocele | |
| Epileptic encephalopathy | |
| Macrocephaly due to hydrocephalus | |
| Oral-pharyngeal dysphagia | |
| Bilateral choanal atresia/stenosis | |
| Small, conical teeth | |
| Megaloblastic erythroid hyperplasia | |
| Anaphylactoid purpura | |
| Cystic medial necrosis of the aorta | |
| Neuronal loss in basal ganglia | |
| Abnormal liver function tests during pregnancy | |
| CSF lymphocytic pleiocytosis | |
| Increased serum bile acid concentration during pregnancy | |
| Cutaneous mastocytosis | |
| Agenesis of lateral incisor | |
| Agenesis of mandibular lateral incisor | |
| Agenesis of permanent mandibular lateral incisor | |
| Agenesis of primary mandibular lateral incisor | |
| Agenesis of maxillary incisor | |
| Agenesis of mandibular incisor | |
| Tall chin | |
| Chin with vertical crease | |
| Extra concha fold | |
| Focal absence of the external ear | |
| Long ear | |
| Short ear | |
| Polymenorrhea | |
| Menometrorrhagia |
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