| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Absent Achilles reflex |
OMIM:311050 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Skin rash, Short stature, Hypermelanotic macule, Corneal opacity, Abnormal ha... |
ORPHA:317 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Short stature, Keratitis, Pruritus, Corneal erosion, Hypohidrosis, Palmoplantar keratod... |
ORPHA:79394 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis |
OMIM:309560 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Short stature, Ataxia, Tremor, Paronychia, Dry skin, Decreased serum zinc, Alo... |
OMIM:201100 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Sparse pubic hair, Perifollicular hy... |
ORPHA:505 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract |
OMIM:274205 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
OMIM:242150 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Aggressive behavior, Developmental cataract, Increased LDL cholesterol concentration, Gait ataxia... |
OMIM:618808 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Alopecia, Eczema |
OMIM:608118 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Gómez-López-Hernández Syndrome |
|
Short stature, Ataxia, Corneal opacity, Impaired pain sensation, Low-set ears, Alopecia of scalp,... |
ORPHA:1532 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Palmoplantar kera... |
ORPHA:2722 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sensorineural ... |
OMIM:602540 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease, Brachydactyly |
OMIM:615995 |
| Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Pes cavus |
OMIM:617018 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Decreased serum iron, Corneal erosion, Dysphagia, Growth delay, Decrea... |
ORPHA:89842 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi... |
ORPHA:3363 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:614561 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Severe short stature, Small for gestational age, Decreased response to growth hormone s... |
OMIM:275400 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Pes cavus, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Restless legs, Alopecia |
OMIM:615604 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Elevated circulating creatine kinase concentration, Sparse ... |
OMIM:615704 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Slc39A8-Cdg |
|
Failure to thrive in infancy, Abnormal blood zinc concentration, Short stature, Inability to walk... |
ORPHA:468699 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Bathing Suit Ichthyosis |
|
Alopecia, Parakeratosis, Impaired temperature sensation, Palmoplantar hyperkeratosis, Hypohidrosi... |
ORPHA:100976 |
| Flynn-Aird Syndrome |
|
Alopecia, Cataract, Ataxia, Hyperkeratosis, Progressive sensorineural hearing impairment, Alopeci... |
OMIM:136300 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... |
ORPHA:1008 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Short stature, Corneal dystrophy, Sclerocornea, Skin ul... |
ORPHA:1806 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology, Decreased patellar reflex, Absent patellar reflexes |
OMIM:614369 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
| Spinal Muscular Atrophy, Jokela Type |
|
Pes planus, Tremor, Calf muscle hypertrophy, Hammertoe, Fasciculations, Pes cavus |
OMIM:615048 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Protruding ear, Microcornea, Sparse hair, Tiger tail banding, Trichoschisis, Short ... |
OMIM:601675 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Myoclonus, Dystonia, Frequent falls, Hypothyroidism |
OMIM:619647 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Corneal opacity, Pruritus, Hyperparakeratosis, Periorifi... |
OMIM:614594 |
| Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Sensorineural hearing impairment, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
| Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Developmental cataract, Hyperkera... |
OMIM:212360 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Abnormal pinna morphology, Eczema, Congenital onychodystr... |
ORPHA:2890 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Lamellar Ichthyosis |
|
Short stature, Pruritus, Lack of skin elasticity, Hyperkeratosis, Sparse hair, Abnormal helix mor... |
ORPHA:313 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Ataxia, Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Cataract, Abnormal pinna morphology, Sparse eyelashes, Abnormal hair pattern, Short stature, Spar... |
ORPHA:35173 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Short stature, Ataxia, Impaired pain sensation, Sensorineural hearing impairment, Gait ... |
ORPHA:2815 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Ichthyosis With Confetti |
|
Short stature, Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Hypoplastic nipples, Scaling ... |
OMIM:609165 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Severe short stature, Hyperpigmentation of the skin, Hypopigmented skin patches, Protru... |
ORPHA:2251 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Hyperker... |
ORPHA:2584 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni... |
OMIM:613091 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Short stature, Spa... |
OMIM:129500 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Short stature, Pruritus, Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy, E... |
OMIM:270300 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic m... |
ORPHA:79397 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Postnatal growth retardation, Sensorine... |
OMIM:617093 |
| Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiphysis morphology... |
ORPHA:2310 |
| Flynn-Aird Syndrome |
|
Alopecia, Cataract, Ataxia, Cachexia, Impaired pain sensation, Primary adrenal insufficiency, Ski... |
ORPHA:2047 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Corneal opacity, Curly eyelashes, Pruritus, Sparse ey... |
OMIM:602400 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Short stature, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal r... |
OMIM:614063 |
| Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity, Cataract, Short stature, Small for gestational age, Hirsutism |
ORPHA:85288 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails... |
ORPHA:2325 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Abnormal pinna morphology, Maculopapular ... |
ORPHA:79147 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... |
ORPHA:248 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Short statu... |
ORPHA:47 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Cataract, Eczema, Aggressive behavior, Hyperphenyl... |
OMIM:261600 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Gonadoblastoma |
|
Gonadal dysgenesis with female appearance, male, Gonadal calcification, Dysgerminoma, Increased s... |
ORPHA:206484 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Sensorineural hearing impairment, Growth delay, Decreased serum zinc, Esophagitis, Intrauterine g... |
ORPHA:541423 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Cataract, Small hand |
OMIM:300261 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Faci... |
OMIM:612843 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humer... |
ORPHA:3130 |
| Chromosome 3Q29 Deletion Syndrome |
|
Hyperactivity, Failure to thrive, Posteriorly rotated ears, Small for gestational age, Aggressive... |
OMIM:609425 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Short stature, Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Ab... |
OMIM:617862 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythem... |
ORPHA:346 |
| Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys, Enlarged k... |
OMIM:613885 |
| Sézary Syndrome |
|
Alopecia, Pruritus, Tremor, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Irregular hyp... |
ORPHA:3162 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Severe short stature, Rhizomelia, Sensorineural hearing impairment, Elevated circulatin... |
OMIM:215100 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Pneumonia, Short stature, Corneal opacity, ... |
ORPHA:1867 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Sparse eyebrow, Hypothyroidism, Fine hair, Hypohidros... |
ORPHA:1882 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Cataract, Eczema, Tremor, Lack of skin elasticity, Growth delay, Self-i... |
ORPHA:79254 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Ataxia, Eczema, Anorexia, Hyperammonemia, Keratoconjunctivitis, Weight loss, Growth del... |
ORPHA:79242 |
| Netherton Syndrome |
|
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Short stature, Sparse eyebrow, Abnormal h... |
ORPHA:634 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Self-injurious... |
ORPHA:494 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... |
OMIM:608636 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash |
OMIM:601979 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Palmoplantar keratoderma, Erythroderma, Irre... |
ORPHA:2897 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Abnormal pinna morphology, Sparse eyelashes, Rhizomelia, Sparse eyebrow, Postnatal grow... |
OMIM:302960 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Micrognathia, Ambiguous genitalia, female, Deformed humerus, Abnormality of t... |
ORPHA:2975 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer, Weight loss, Hyperkeratosis, Palmoplantar keratoderma, Erythroderma, Conjunctival ham... |
ORPHA:312 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Netherton Syndrome |
|
Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent skin infections, Allergic rhinitis, Ecz... |
OMIM:256500 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Large for gestational age |
ORPHA:2432 |
| Omenn Syndrome |
|
Alopecia, Pneumonia, Pruritus, Thyroiditis, Dry skin, Erythroderma, Failure to thrive, Hypothyroi... |
ORPHA:39041 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Hyporeflexi... |
ORPHA:98763 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Erythroderm... |
OMIM:242300 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Short stature, Anorexia, Pustule, Paronychia,... |
ORPHA:37 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Cachexia, Anorexia, Xerostomia, Hypokalemia, Paresthesia, Hypocalcemia, Nail ... |
OMIM:175500 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Incontinentia Pigmenti |
|
Uveitis, Hyperhidrosis, Abnormality of skin pigmentation, Abnormal toenail morphology, Infectious... |
ORPHA:464 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Otitis externa, Perioral erythema, Erythroderma, Failure ... |
OMIM:614328 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Short stature, Absent eyelashes, Sparse eyebrow, Growth delay, Decrease... |
ORPHA:2985 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Seborrheic dermatitis, Early balding, Fai... |
OMIM:121270 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Pes cavus |
OMIM:607458 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Short stature, Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repe... |
OMIM:617270 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Short stature, Growth delay, Macrotia, Sparse body hair, Aplasia/Hyp... |
ORPHA:2850 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb... |
ORPHA:216873 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Le... |
ORPHA:251282 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Failure to thrive, Hearing impairment |
ORPHA:337 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms, Short stature |
OMIM:300271 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Severe short stature, Cataract, Cachexia, Sensorineural ... |
ORPHA:3242 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Micromelia, Hepatosplenomegaly |
OMIM:273680 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Short stature |
DECIPHER:8 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Pain insensitivity, Short stature, Eczema, Highly arched eyebrow, Aggressive behav... |
OMIM:600430 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Small nail, Abnormal repetitive man... |
OMIM:619470 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Pruritus, Follicular hyperkeratosis, Erythroderma, Alopecia of scalp, Hyperpig... |
OMIM:608649 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Abnormal... |
ORPHA:3344 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Alopecia, Agitation, Erythroderma |
OMIM:618840 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal r... |
OMIM:619150 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Prominent ear helix, Stereotypica... |
ORPHA:100973 |
| Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:608631 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent skin infections, Decreased serum iron, Overweight, Repetitive compulsive behavior, Abno... |
ORPHA:391372 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Gonadotropin... |
ORPHA:71526 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Micrognathia |
OMIM:618272 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cataract, Anorexia, Cach... |
ORPHA:2930 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Hepatitis, Skin ulcer, Hypopigmented skin pat... |
ORPHA:525 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Hand clenching, F... |
ORPHA:240103 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Pruritus, Recurrent pneumonia, Bronch... |
OMIM:618282 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, ... |
ORPHA:411515 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor... |
ORPHA:98762 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Hyperactivity, Small for gestational age, Eczema, Highly arched eyebrow, Short stature, Cryptorch... |
ORPHA:352490 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:607373 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Bilateral coxa valga, Limb dystonia |
OMIM:620270 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Thick hair, Corneal opacity, Postnatal growth retardation, Inability to walk, Excessive w... |
ORPHA:357058 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short palm, Ataxia, Tremor, Small hand, Dysmetria, Gait ataxia, Short foot, Dysdiadochokinesis, T... |
OMIM:610185 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms |
OMIM:239500 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Cataract, Split foot, Hand monodactyly |
OMIM:183800 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Senso... |
ORPHA:2885 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hyperactivity, Alopecia, Posteriorly rotated ears, Decreased response to growth hormone stimulati... |
OMIM:601853 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Cataract, Rhizomelia, Short stature, Growth delay, Dry skin, Sparse body hair |
ORPHA:177 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Impaired temperature sensation, Inability to walk, Penetrating... |
ORPHA:36386 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Pain insensitivity, Keratitis, Corne... |
OMIM:256800 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Postural tremor, Iridocyclitis, Unsteady gait, Impaired proprioception, Truncal ataxia,... |
ORPHA:412057 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Posteriorly rotated ears, Thin eyebrow, Low-set ears, High anterior hairline, Recurrent hand flap... |
OMIM:618147 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:606053 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Short stature, Aggressive behavior, Anteverted ears, Synophrys, Macrotia, Abnormal... |
OMIM:615541 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking, Cataract |
OMIM:617393 |
| Hurler-Scheie Syndrome |
|
Short stature, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Generalized hirsutism |
ORPHA:93476 |
| Mucolipidosis Type Iii |
|
Hearing abnormality, Acne, Short stature, Corneal opacity |
ORPHA:577 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Corneal erosion, Gastrointestinal inflammation, Gr... |
ORPHA:79408 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Sensorineural hearing impairment, Fine hair, Sparse body hair, Abnormal t... |
ORPHA:202 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hyperactivity, Abnormal pinna morphology, Small for gestational age, Failure to thrive in infancy... |
OMIM:614104 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Patchy ... |
OMIM:606367 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng... |
OMIM:617284 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Large fleshy ears, Severe postnatal growth retardation, Alopecia, Severe short stature |
OMIM:203550 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Pes cavus, Spastic gait |
OMIM:600363 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Foxg1 Syndrome |
|
Dystonia, Short stature, Inability to walk, Bruxism, Choreoathetosis, Severe postnatal growth ret... |
ORPHA:561854 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Decreased body weight, Broad-based gait, Short stature, Ataxia, Inability to walk, Limb ataxia, S... |
OMIM:617695 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Short Syndrome |
|
Alopecia, Severe short stature, Corneal opacity, Posterior embryotoxon, Sensorineural hearing imp... |
ORPHA:3163 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Corneal opacity |
ORPHA:1980 |
| Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Ear pain, Paronychia, Onychogryposis of toenails, Linear arrays of m... |
ORPHA:2309 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Short stature, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration sensation,... |
OMIM:614213 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Slc35A2-Cdg |
|
Camptodactyly of finger, Spastic tetraparesis, Coxa valga, Precocious puberty, Metatarsus adductu... |
ORPHA:356961 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature, Corneal opacity |
ORPHA:2370 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Premature graying of hai... |
ORPHA:33445 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome |
OMIM:201910 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Short metatarsal, Flattened epiphysis, I... |
ORPHA:1856 |
| Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr... |
ORPHA:454887 |
| Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Short stature, Impaired pain sensation, Synophrys, Self hugg... |
OMIM:182290 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Absent eyelashes, Protruding ear, Hypohidrosis, M... |
ORPHA:2316 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Severe short stature, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pat... |
ORPHA:3051 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Cataract, Prim... |
ORPHA:3453 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Hy... |
OMIM:314390 |
| Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Fibular hypoplasia, Lateral humeral condyle aplasia, Opacification of ... |
OMIM:164900 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Scaling skin, Periungual erythema, Neonatal death, Dystrophic fingernails, Absent eyebr... |
OMIM:308205 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Scaling skin on fingertip, Parakeratosis, Sensorineural hearing impairment, Palmoplanta... |
ORPHA:79395 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Cataract, Abnorma... |
ORPHA:166011 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Short stature, Highly arched eyebrow, Aggressive behavior, Tremor, Sensorineural h... |
OMIM:618342 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Small scrotum, Hypospadias, Cryptorchidism, H... |
OMIM:607143 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hypohidrosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Erythroderma... |
OMIM:612281 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Alopecia totalis, Lack of skin elasticity, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:1366 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long toe, Lon... |
OMIM:608836 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Pruritus, Crusting erythemat... |
ORPHA:742 |
| Incontinentia Pigmenti |
|
Ridged nail, Uveitis, Abnormality of skin pigmentation, Coarse hair, Pallor, Sparse hair, Atrophi... |
OMIM:308300 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Synophrys, Growth delay, Gait disturbance, Inappropriate laughter, Diffi... |
ORPHA:505652 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum |
ORPHA:1381 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Sensorineural hearing impairment, Erythema,... |
ORPHA:659 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Small for gestational age, Decreased serum iron, Chronic hepatitis, Colitis, Uncomb... |
OMIM:614602 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Short stature, Ataxia, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysma... |
ORPHA:228402 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal localization of kidney,... |
ORPHA:1988 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:617145 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma, Int... |
OMIM:133190 |
| Radio-Tartaglia Syndrome |
|
Tremor, Synophrys, Low anterior hairline, Conductive hearing impairment, Abnormal repetitive mann... |
OMIM:619312 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Ataxia, Corneal opacity, Dysmetria, Dysphagia, Low-set ears, Generalized hypertrichosis... |
ORPHA:93399 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Transketolase Deficiency |
|
Cataract, Proportionate short stature, Seborrheic dermatitis, Elevated circulating ribitol concen... |
ORPHA:488618 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Ataxia, Seborrheic dermatitis, Sensorineural hear... |
OMIM:253260 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Cataract, Small for gestational age, Posteriorly rotated ears, Short stature, Decr... |
OMIM:618392 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Erythema, Hypohidrosis, Growth delay, ... |
OMIM:242100 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive, Hypo... |
OMIM:304790 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Chorea, Optic neuritis, Malar rash, Myelitis |
OMIM:301080 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Sev... |
OMIM:601706 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
| Christianson Syndrome |
|
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Macrotia, Abn... |
ORPHA:85278 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Cataract, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Hypospadias, Sandal gap, Micromelia... |
OMIM:612651 |
| Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive |
OMIM:609180 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
| Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria |
ORPHA:363710 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agita... |
OMIM:309548 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Adrenoleukodystrophy |
|
Alopecia, Primary adrenal insufficiency, Limb ataxia, Attention deficit hyperactivity disorder, T... |
OMIM:300100 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Long foot, Abnormal thumb morphology, ... |
ORPHA:500095 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Cataract, Iridocyclit... |
OMIM:240300 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Hypoalbuminemia, Dry skin |
ORPHA:1954 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cataract, Eczema, Dry skin, Cutis laxa, Abnormality of skin pigmentation, Hyperkeratosis, Low-set... |
OMIM:612379 |
| Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx... |
OMIM:601559 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Short metacarpal, Cataract |
ORPHA:2489 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:404 |
| Harlequin Ichthyosis |
|
Cataract, Hearing abnormality, Hyperkeratosis, Self-injurious behavior, Erythroderma |
ORPHA:457 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
| Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Protruding ear, Gait ataxia, Micr... |
ORPHA:33364 |
| Chilblain Lupus 1 |
|
Abnormality of the nail, Chilblains, Skin ulcer |
OMIM:610448 |
| Baralle-Macken Syndrome |
|
Cataract, Inability to walk, Hirsutism, Obesity, Dystonia, Cafe-au-lait spot, Striae distensae |
OMIM:619255 |
| Sialidosis Type 2 |
|
Short stature, Corneal opacity, Ataxia, Tremor, Hearing impairment |
ORPHA:87876 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Allergic rhinitis, Absent facial h... |
ORPHA:90368 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Obesity, Polyphagia, Iris ... |
ORPHA:177910 |
| Dermatitis, Atopic |
|
Keratoconus, Cataract, Recurrent skin infections, Allergic rhinitis, Eczema, Pruritus, Atopic der... |
OMIM:603165 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short stature, Hirsutism, Bruxism |
OMIM:300434 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... |
ORPHA:90791 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature |
ORPHA:1355 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Short stature, Corneal opacity, Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit h... |
ORPHA:281090 |
| Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hypohidrosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Opacifica... |
ORPHA:461 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short ste... |
OMIM:620076 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hypohidrosis,... |
ORPHA:238468 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ... |
ORPHA:2557 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconj... |
OMIM:158310 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Abnormal repetitive mannerisms, Self-injurious behavior, Low anterior hairline, Thin eyebrow |
OMIM:619690 |
| Hypomelanosis Of Ito |
|
Macular hypopigmented whorls, streaks, and patches, Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Alopecia, Severe short stature, Moderate postnatal growth reta... |
ORPHA:1005 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cataract, Hypoplasia of the odontoid process, Small hand, Cone-shaped epiphyses of the phalanges ... |
ORPHA:85172 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1839 |
| Cystinosis |
|
Short stature, Corneal opacity, Hypothyroidism, Hypokalemia, Gait disturbance, Hypophosphatemia, ... |
ORPHA:213 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia, Sensorineural hearing impairment, Microtia, Subcapsular cataract |
OMIM:275630 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Agitation, Aggressive behavior |
OMIM:617171 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... |
ORPHA:895 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Horseshoe kidney, Narrow pelvi... |
OMIM:608022 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Overweight, Cheilit... |
ORPHA:247353 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Cataract, Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyse... |
OMIM:614376 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Dystonia |
OMIM:617820 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... |
ORPHA:2229 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Recurrent pneumonia, Pyoderma gangrenosu... |
OMIM:616576 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Skin rash, Short stature, Corneal opacity, Sensori... |
ORPHA:290 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Dystonia |
OMIM:612126 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, O... |
ORPHA:411511 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
| Bresek Syndrome |
|
Alopecia, Cryptorchidism, Protruding ear, Growth delay, Low-set ears, Neonatal death, Intrauterin... |
ORPHA:85284 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Short stature, Sparse eyebrow, Dry ski... |
OMIM:129400 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Persistent pupillary membrane, Woolly sca... |
ORPHA:79414 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:403 |
| Senior-Loken Syndrome |
|
Cataract, Chronic kidney disease, Stage 5 chronic kidney disease, Cone-shaped epiphysis, Nephrono... |
ORPHA:3156 |
