| Syndactyly Type 4 |
|
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... |
ORPHA:93405 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Optic Atrophy 2 |
|
Absent Achilles reflex, Babinski sign, Tremor, Dysdiadochokinesis |
OMIM:311050 |
| Erythrokeratodermia Variabilis |
|
Generalized hirsutism, Abnormality of the nail, Dry skin, Abnormal testis morphology, Abnormal ha... |
ORPHA:317 |
| Acromesomelic Dysplasia 2C |
|
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... |
OMIM:201250 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Sho... |
OMIM:200700 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Abnormality of the nail, Pruritus, Hypohidrosis, Palmoplantar keratoderma, Erythroderma, Failure ... |
ORPHA:79394 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... |
OMIM:118651 |
| Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... |
OMIM:607778 |
| Osebold-Remondini Syndrome |
|
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor |
OMIM:160120 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Perianal erythema, Decreased testicular size, Ataxia, Perioral erythema, Fa... |
OMIM:201100 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Pes cavus, Palmoplantar hyperkeratosis, Spastic paraplegia, Tremor |
OMIM:309560 |
| Acromesomelic Dysplasia, Grebe Type |
|
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Hand oligodactyly, Tibial bowing, Foot oligodactyly, Fibular aplasia, Short tibia, Syndactyly |
OMIM:246570 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Ataxia, Slurred speech, Tremor |
OMIM:613227 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Micropenis, Short tibia... |
OMIM:612447 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Triphalangeal thumb, Preaxial polydactyly, Short tibia, Fibular duplication |
OMIM:188740 |
| Fibular Hemimelia |
|
Fibular hypoplasia, Limited knee flexion/extension, Renal dysplasia, Short tibia, Short toe, Incr... |
ORPHA:93323 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
| Langer Mesomelic Dysplasia |
|
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... |
OMIM:249700 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Acheiropody |
|
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... |
OMIM:200500 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis, Alopecia, Sparse pubic hair, Sparse axillary hair, Spars... |
ORPHA:505 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, 3-4 finger... |
OMIM:619217 |
| Congenital Megacalycosis |
|
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... |
ORPHA:93109 |
| Primary Dystonia, Dyt27 Type |
|
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... |
ORPHA:464440 |
| Primary Dystonia, Dyt13 Type |
|
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... |
ORPHA:98807 |
| Leri-Weill Dyschondrosteosis |
|
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... |
OMIM:127300 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Hidrotic Ectodermal Dysplasia |
|
Cobblestone-like hyperkeratosis, Absent pubic hair, Anonychia, Fine hair, Absent axillary hair, H... |
ORPHA:189 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Short thumb |
OMIM:274205 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Pseudoarthrosis, Short tibia |
OMIM:156230 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Ataxia, Spasticity, Premature ovarian insufficiency, Tremor |
OMIM:615889 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... |
ORPHA:1972 |
| Zinc Deficiency, Transient Neonatal |
|
Eczema, Decreased serum zinc, Alopecia |
OMIM:608118 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor |
OMIM:618866 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Impaired pain sensation, Corneal opacity, Ataxia, Toenail dysplasia, Short stature,... |
ORPHA:1532 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Spinocerebellar Ataxia Type 15/16 |
|
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... |
ORPHA:98769 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Palmoplantar keratoderma, Hypoplastic toenails, Sparse eyebrow, Sparse body hair, Alopecia, Spars... |
ORPHA:2722 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Sparse hair, Ataxia, Alopecia |
OMIM:212835 |
| Gollop-Wolfgang Complex |
|
Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
| Dyschondrosteosis And Nephritis |
|
Short forearm, Ulnar bowing, Nephritis, Short tibia, Radial bowing |
OMIM:127350 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair, Incoordination, Developmental cataract, Gait ataxia, Increased LDL cholesterol concent... |
OMIM:618808 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... |
OMIM:613496 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Hypogonadism, Tremor |
OMIM:312910 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Long eyebrows, Small for gestational age, Long eyelashes, Cryptorchidism, ... |
OMIM:275400 |
| Kerion Celsi |
|
Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the... |
ORPHA:499 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract, Hepatomegaly |
ORPHA:79281 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Pes cavus, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Flynn-Aird Syndrome |
|
Cataract, Ataxia, Progressive sensorineural hearing impairment, Hyperkeratosis, Alopecia, Alopeci... |
OMIM:136300 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Metaphyseal chondrodysplasia, Tremor |
OMIM:300660 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Lytic defects of humeral di... |
OMIM:601376 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Gait ataxia, Pes cavus, Rigidity, Limb ataxia, Tremor |
OMIM:617018 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Abnormal foot morphology, Fibular aplasia, Talipes equinovalgus, Short ti... |
OMIM:605274 |
| Hypotrichosis 4 |
|
Pili torti, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Alopecia, Sparse hair |
OMIM:146550 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Myoclonus, Tremor |
OMIM:611092 |
| Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Nail dysplasia, Corneal opacity, Nail dystroph... |
OMIM:614594 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... |
OMIM:614561 |
| Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Impaired pain sensation, Cataract, Spastic paraparesis, Ataxia,... |
ORPHA:2815 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Erysipelas, Hypohidrosis, Cataract, Nail dysplasia, Growth delay, Elevated circulating creatine k... |
OMIM:615704 |
| Dystonia 27 |
|
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia |
OMIM:616411 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dys... |
ORPHA:3177 |
| Slc39A8-Cdg |
|
Abnormal blood zinc concentration, Dystonia, Low-set ears, Failure to thrive in infancy, Hypomang... |
ORPHA:468699 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Intrauterine growth retardation, Ataxia, Nail dystrophy, Failur... |
OMIM:616353 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... |
OMIM:314250 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... |
OMIM:605407 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... |
OMIM:260300 |
| Hypotrichosis Simplex |
|
Sparse eyebrow, Sparse body hair, Alopecia, Sparse eyelashes, Sparse scalp hair, Sparse hair |
ORPHA:55654 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Perifolliculitis, Alopecia |
OMIM:260910 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
| Alopecia Areata 1 |
|
Patchy alopecia, Trachyonychia, Nail pits, Alopecia universalis, Alopecia totalis |
OMIM:104000 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly, Cataract, Renal insufficiency |
OMIM:615995 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor |
OMIM:608687 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum zinc, Decreased body weight, Recurrent skin infections, Decreased serum iron, Nai... |
ORPHA:89842 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Periodontitis, Sparse body hair, Alopecia universalis, Sparse scalp ... |
ORPHA:1008 |
| Bathing Suit Ichthyosis |
|
Hypohidrosis, Parakeratosis, Palmoplantar hyperkeratosis, Impaired temperature sensation, Nail dy... |
ORPHA:100976 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia, Hypospadias |
OMIM:201710 |
| Hypotrichosis 5 |
|
Absent pubic hair, Thin eyebrow, Sparse eyelashes, Alopecia, Absent axillary hair |
OMIM:612841 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hypohidrosis, Corneal dystrophy, Sclerocornea, Microcornea, Cat... |
ORPHA:1806 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Punctate keratitis, Palmoplantar keratoderma, Absent eyelashes, Sensorineural hearing impairment,... |
OMIM:602540 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Corneal dystrophy, Low-set ears, Sensorineural hearing impairment, Short stature,... |
OMIM:617763 |
| Tietz Syndrome |
|
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
| Alopecia Areata 2 |
|
Patchy alopecia, Alopecia of scalp, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Diffuse palmoplantar hyperkeratosis, Hypopigmentation of the skin, Dystrophic toenail, Sparse bod... |
OMIM:617294 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor |
OMIM:213000 |
| Tibial Hemimelia |
|
Cryptorchidism, Radial club hand, Mesomelic leg shortening, Short tibia, Increased laxity of ankl... |
ORPHA:93322 |
| Spinal Muscular Atrophy, Jokela Type |
|
Hammertoe, Pes planus, Fasciculations, Pes cavus, Calf muscle hypertrophy, Tremor |
OMIM:615048 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypohidrosis, Opacification of the corneal stroma, Absent eyelashes, Cryptorchidism, Follicular h... |
OMIM:308205 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Brittle hair, Pili torti, Small for gestational age, Microcornea, Cataract, Fine hair... |
OMIM:601675 |
| Moynahan Syndrome |
|
Sensorineural hearing impairment, Hyperkeratosis, Short stature, Cachexia, Alopecia, Sparse hair |
ORPHA:2574 |
| Candidiasis, Familial, 1 |
|
Chronic mucocutaneous candidiasis, Alopecia |
OMIM:114580 |
| Pili Torti-Onychodysplasia Syndrome |
|
Abnormal pinna morphology, Brittle hair, Palmoplantar keratoderma, Absent eyelashes, Congenital o... |
ORPHA:2890 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Developmental cataract, Palmoplantar hyperkeratosis, Nail dysplasia, Facial erythema, Nail dystro... |
OMIM:212360 |
| Lamellar Ichthyosis |
|
Abnormality of the nail, Pruritus, Abnormal helix morphology, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:313 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor |
OMIM:618425 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormality of the nail, Patchy alopecia, Coarse hair, Low-set ears, Severe postnatal growth reta... |
ORPHA:35173 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Periodontitis, Alopecia universalis, Congenital alopecia totalis |
OMIM:104130 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Pes cavus, Spasticity, Babinski si... |
OMIM:607317 |
| Dystonia, Dopa-Responsive |
|
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Pes cavus... |
OMIM:128230 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Ataxia, Tremor |
OMIM:611105 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Brachydactyly, Enlarged kidney, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Shor... |
OMIM:613091 |
| Laurin-Sandrow Syndrome |
|
Absent radius, Absent tibia, Triphalangeal thumb, Hand polydactyly, Broad foot, Fibular duplicati... |
OMIM:135750 |
| Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Alopecia universalis, Absent axill... |
OMIM:615059 |
| Alopecia Universalis |
|
Absent eyelashes, Alopecia universalis, Patchy alopecia, Absent eyebrow |
ORPHA:701 |
| Classic Mycosis Fungoides |
|
Abnormality of the nail, Pruritus, Hypopigmented skin patches, Erythema, Eczema, Hyperkeratosis, ... |
ORPHA:2584 |
| Dysequilibrium Syndrome |
|
Cataract, Ataxia, Cerebral palsy, Short stature, Gait disturbance |
ORPHA:1766 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Sensorineural hearing impairment, Erythroderma, Failure to thrive, Short stature, Fragile nails, ... |
OMIM:242150 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Hypopigmented skin patches, Severe short stature, Onychogryposis of fin... |
ORPHA:2251 |
| Flynn-Aird Syndrome |
|
Primary adrenal insufficiency, Impaired pain sensation, Cataract, Ataxia, Progressive sensorineur... |
ORPHA:2047 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Clouston Syndrome |
|
Small nail, Absent pubic hair, Brittle hair, Blepharitis, Cataract, Nail dysplasia, Sparse eyebro... |
OMIM:129500 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of epiphysis morphology, Cataract, Abnormality of the lower limb, Abnormality of femu... |
ORPHA:2310 |
| Thumb Deformity And Alopecia |
|
Short stature, Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Ankle clonus, Spasticity, Limb ataxia, Truncal ataxia, Babinski sign, Hypogonadism, Tremor |
OMIM:615768 |
| Orofaciodigital Syndrome Type 10 |
|
Hypoplasia of proximal radius, Preaxial polydactyly, Mesomelic leg shortening, Oligodactyly, Micr... |
ORPHA:2756 |
| L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Alopecia |
OMIM:615604 |
| Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Renal insufficiency, Polycystic kidney dysplasia |
OMIM:615382 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Hypomelanotic macule, Nail dysplasia, Mixed hypo- and hyperpigmentation of ... |
ORPHA:79397 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Dystrophic toenail, Thin toenail, Alopecia |
OMIM:614928 |
| Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor |
OMIM:616921 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Dermal translucency, Decreased serum zinc, Intrauterine growth retardation, Sensorineural hearing... |
ORPHA:541423 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Absent radius, Hydronephrosis, Hand polydactyly, Proximal placement of thumb, Sh... |
OMIM:314390 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... |
ORPHA:101110 |
| Parkinsonism With Spasticity, X-Linked |
|
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign |
OMIM:300911 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Abnormal foot morphology, Tremor |
OMIM:614369 |
| Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Popliteal pterygium, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormalit... |
ORPHA:3329 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor |
ORPHA:401901 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Hypoplastic toenails, Alopecia, Toenail dysplasia, Fingernail dysplasia, Sparse scalp hair, Abnor... |
ORPHA:2325 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Abnormality of the nail, Hyperpigmentation of the skin, Alopecia totalis |
OMIM:302000 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Spasticity, Ataxia, Tremor |
OMIM:614307 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Developmental cataract, Severe short stature, Sensorineural hearing impairment, Rhizomelia, Sever... |
OMIM:215100 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Hypohidrosis, Blepharitis, Pili torti, Sparse eyebrow, Corneal opacity, Hyperkerato... |
OMIM:602400 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Aplasia/Hypop... |
ORPHA:1067 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Abnormal hair morphology, Abnormal toenail morphology, Fine hair, Alopecia, Abnorma... |
ORPHA:248 |
| Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
| Sézary Syndrome |
|
Pruritus, Palmoplantar keratoderma, Nail dystrophy, Erythroderma, Alopecia, Irregular hyperpigmen... |
ORPHA:3162 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Sparse hair, Alopecia |
OMIM:203600 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent pneumonia, Weight loss, Hypopigmented skin patches, Arthritis, Sensorineural... |
ORPHA:47 |
| Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Familial Reactive Perforating Collagenosis |
|
Pruritus, Perifolliculitis, Maculopapular exanthema, Spotty hyperpigmentation, Inflammatory abnor... |
ORPHA:79147 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Adrenal insufficiency, Central adrenal insufficiency, Upper motor neuron dysfunction, Hyperpigmen... |
OMIM:612079 |
| Blount Disease |
|
Abnormality of the proximal tibial epiphysis, Tibial bowing, Abnormality of the knee, Abnormality... |
ORPHA:2768 |
| Deafness-Craniofacial Syndrome |
|
Hearing impairment, Alopecia |
OMIM:125230 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Micropenis, Cataract |
OMIM:610156 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Short foot, Small hand, Abnormal hand morphology |
OMIM:300261 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Abnormal pyramidal sign, Frequent falls, Dysmetria, Hammertoe, Hoffmann sign, Ataxia, Pes cavus, ... |
OMIM:618438 |
| Pseudoprogeria Syndrome |
|
Decreased body weight, Absent eyelashes, Sparse eyebrow, Growth delay, Absent eyebrow, Progressiv... |
ORPHA:2985 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Blepharitis, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplasia, Sparse eyebrow... |
OMIM:612843 |
| Renal Dysplasia |
|
Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic kidney dyspl... |
ORPHA:93108 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Leg muscle stiffness, Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia,... |
ORPHA:251282 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Recurrent otitis media, Absent eyelashes, Absent eyebrow, Nail dystrophy, Thin na... |
OMIM:618625 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Hemiballismus, Frequent falls, Chorea, Tremor |
ORPHA:494526 |
| Aa Amyloidosis |
|
Enlarged kidney, Nephrotic syndrome, Acute kidney injury, Proteinuria, Abnormality of the kidney,... |
ORPHA:85445 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypertonia, Cataract, Hypopigmentation of the skin, Tremor, Growth dela... |
ORPHA:79254 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Hypertonia, Hypopigmentation of the skin, At... |
ORPHA:33445 |
| Galactosialidosis |
|
Corneal opacity, Hearing impairment |
ORPHA:351 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Cryptorchidism, Sandal gap, Short ribs, Rhizomelia, Hypoplasia of the radius, Micr... |
OMIM:607143 |
| Quinquaud Folliculitis Decalvans |
|
Patchy alopecia, Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp,... |
ORPHA:346 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Atrichia, Cryptorchidism, Cataract, Corneal opacity, Growth delay, Nail dystrophy, Sho... |
ORPHA:1867 |
| Gonadoblastoma |
|
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... |
ORPHA:206484 |
| Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616366 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Repetitive compulsive behavior, Small for gestational age, Low-set ears, Cryptorchidism, Motor st... |
ORPHA:352490 |
| Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Hyperkeratosis, Erythroderma, Failure to thrive, Scaling skin, Dry skin, Hypertonia |
OMIM:609180 |
| Griscelli Syndrome, Type 3 |
|
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:168100 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Sparse scalp hair, Sparse body hair, Trich... |
ORPHA:3361 |
| Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Abnormality of extrapyramidal motor function, Hearing impairment, Tremor |
OMIM:165300 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor |
OMIM:610297 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis, Dystrophic toenail, Sparse eyebrow, Fine hair, Alopecia, Short stat... |
ORPHA:1882 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... |
OMIM:611302 |
| Netherton Syndrome |
|
Abnormal hair morphology, Sparse eyebrow, Fine hair, Trichorrhexis nodosa, Eczema, Erythroderma, ... |
ORPHA:634 |
| Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... |
OMIM:602088 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Ataxia, Gait disturbance, Rigidity, Spasticity, Babinski sign, Alopecia, Abnormality of extrapyra... |
OMIM:600142 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash |
OMIM:601979 |
| Copper Deficiency, Familial Benign |
|
Early balding, Failure to thrive, Seborrheic dermatitis, Abnormal circulating copper concentratio... |
OMIM:121270 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Clinodactyly, Fibular hypoplasia, 11 pairs of ribs, Triphalangeal thumb, Oligodactyly, Micrognath... |
OMIM:201170 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the thumb, Abnormality of fibula morphology, Ap... |
ORPHA:988 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Short stature, Cataract, Hirsutism, Small for gestational age |
ORPHA:85288 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patchy alopecia, Elevated 8-dehydrocholesterol, Hearing impairment, Rhizomelia, Cataract, Sparse ... |
OMIM:302960 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... |
ORPHA:1505 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Foot monodactyly, Bifid femur, Aplasia of the ulna, Split hand, Hand monodactyly |
OMIM:228250 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Nail pits, Ridged nail |
ORPHA:169095 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Hand tremor, Impaired proprioception, Head tremor, Oculomotor apraxia, Alopecia, ... |
ORPHA:412057 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Failure to thrive, Spasticity, Juvenile cataract |
ORPHA:500545 |
| Satoyoshi Syndrome |
|
Genu varum, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Abnormality of the... |
ORPHA:3130 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Decreased circulating renin level, Hyperaldosteronism |
OMIM:103900 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Decreased testicular size, Woolly hair, Woolly scalp hair, Alopecia |
OMIM:601217 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Flattened epiphysis, Knee osteoarthritis, Tibial bowing, Fl... |
ORPHA:93356 |
| Corneodermatoosseous Syndrome |
|
Corneal dystrophy, Palmoplantar hyperkeratosis, Onycholysis, Erythroderma, Short stature |
OMIM:122440 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Talipes equinovarus, Femoral bowing |
OMIM:615415 |
| Stuve-Wiedemann Syndrome 1 |
|
Talipes, Micrognathia, Short tibia, Opacification of the corneal stroma, Bowing of the long bones... |
OMIM:601559 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Recurrent skin infections, Orthokeratosis, Acantholysis, Growth delay, ... |
OMIM:615508 |
| Pityriasis Rubra Pilaris |
|
Abnormality of the nail, Pruritus, Palmoplantar keratoderma, Eczema, Erythroderma, Pustule, Irreg... |
ORPHA:2897 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency, Pedal edema |
ORPHA:75325 |
| Ichthyosis With Confetti |
|
Hyperkeratosis, Erythroderma, Palmoplantar hyperkeratosis, Hypertrichosis |
OMIM:609165 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Skin ulcer, Weight loss, Conjunctival ham... |
ORPHA:312 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Holocarboxylase Synthetase Deficiency |
|
Ataxia, Alopecia, Growth delay, Eczema, Keratoconjunctivitis, Perioral eczema, Weight loss, Hyper... |
ORPHA:79242 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Recurrent otitis media, Pruritus, Recurrent skin infections, Bronchiectasis, Eczema, Atopic derma... |
OMIM:618282 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Gabriele-De Vries Syndrome |
|
Cryptorchidism, Long fingers, Dystonia, Tremor |
OMIM:617557 |
| Foxg1 Syndrome |
|
Decreased body weight, Dystonia, Choreoathetosis, Severe postnatal growth retardation, Motor ster... |
ORPHA:561854 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor |
OMIM:615528 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Absent tibia, Short hallux, Aplasia/Hypoplasia of the ulna, Split hand... |
OMIM:119100 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Alopecia-Intellectual Disability Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Alopecia, Growth delay, Short stature, Macro... |
ORPHA:2850 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microcornea, Corneal opacity |
ORPHA:2432 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Micromelia, Cataract, Hepatosplenomegaly |
OMIM:273680 |
| Epilepsy, Progressive Myoclonic 7 |
|
Ataxia, Myoclonus, Tremor |
OMIM:616187 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Woolly hair, Small for gestational age, Intrauterine growth retardation, Decreased ... |
OMIM:614602 |
| Hurler-Scheie Syndrome |
|
Generalized hirsutism, Abnormal pyramidal sign, Sensorineural hearing impairment, Corneal opacity... |
ORPHA:93476 |
| Incontinentia Pigmenti |
|
Abnormality of the nail, Uveitis, Ridged fingernail, Keratitis, Skin ulcer, Abnormal fingernail m... |
ORPHA:464 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Abnormality of the ear, Recurrent otitis media, Repetitive compulsive behavior, R... |
ORPHA:391372 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular dystonia, Li... |
ORPHA:216873 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Perianal erythema, Perioral erythema, Erythroderma, Failure to thrive, Onychogryposi... |
OMIM:614328 |
| Omenn Syndrome |
|
Hypothyroidism, Pruritus, Pneumonia, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Failure to t... |
ORPHA:39041 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Palmoplantar hyperkeratosis, Nail dysplasia, Nail dystrophy, Erythroderma, Alopeci... |
OMIM:242300 |
| Spinocerebellar Ataxia Type 14 |
|
Abnormality of the Achilles tendon, Hyporeflexia of lower limbs, Gait ataxia, Progressive cerebel... |
ORPHA:98763 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Myoclonus, Tremor |
OMIM:159900 |
| Acromesomelic Dysplasia 2B |
|
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... |
OMIM:228900 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia |
OMIM:202110 |
| Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... |
OMIM:609441 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Clinodactyly, Aplasia/Hypoplasia of the 5th finger, Hypoplastic iliac wing, Aplasia/Hypoplasia of... |
OMIM:228930 |
| Developmental And Epileptic Encephalopathy 97 |
|
Stereotypical hand wringing, Inability to walk, Tremor |
OMIM:619561 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin patches, Sensorineural hearing... |
ORPHA:2885 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Pes cavus, Progressive gait ataxia, Dysdiadochokinesis, Babinski sign, Tremor |
OMIM:607458 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Progressive spastic paraplegia, Impaired pain sensation, Spastic paraplegia, Acral ulceration, Sp... |
ORPHA:139578 |
| Renpenning Syndrome |
|
Severe short stature, Thin eyebrow, Cataract, Sensorineural hearing impairment, Growth delay, Mac... |
ORPHA:3242 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Cataract 47 |
|
Glycosuria, Microcornea, Cataract |
OMIM:612018 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Split hand, Split foot, Hand monodactyly |
OMIM:183800 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Progressive spastic paraplegia, Dystonia, Motor stereotypy, Spastic dysarthria, Overweight, Short... |
ORPHA:280763 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Ankl... |
OMIM:270500 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Trichodysplasia-Xeroderma |
|
Brittle hair, Coarse hair, Pili torti, Sparse eyebrow, Alopecia, Slow-growing hair, Sparse pubic ... |
OMIM:190360 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
| Ichthyosis Prematurity Syndrome |
|
Pruritus, Erythroderma, Allergic rhinitis, Hyperpigmentation of the skin, Follicular hyperkeratos... |
OMIM:608649 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Hemiparesis, Tremor |
OMIM:141500 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Brittle hair, Palmoplantar keratoderma, Epidermal hyperkeratosis, Nail dysplasia, Sparse eyebrow,... |
OMIM:104100 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... |
ORPHA:3344 |
| Leber Congenital Amaurosis 1 |
|
Eye poking, Sensorineural hearing impairment, Cataract, Growth delay, Pigmentary retinopathy, Hyp... |
OMIM:204000 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Small nail, Paralysis, Hypohidrosis, Palmoplantar keratoderma, Abnormal hair morphology, Erythema... |
OMIM:242100 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Clinodactyly, Short palm, Cataract, Short middle phalanx of toe, Micrognathia, Short proximal pha... |
OMIM:251190 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Splenomegaly, Ataxia, Gait ataxia, Spasticity, Talipes equinovarus, Tremor |
OMIM:616719 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Spastic dysarthria, Cataract, Lower limb spasticity,... |
ORPHA:401830 |
| Lopes-Maciel-Rodan Syndrome |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Bradykinesia, Tremor, Spasticity, Small hand, Shor... |
OMIM:617435 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Ankle clonus, Parkinsonism, Dystonia, Oromandibular dystonia, Bradykinesia, Scissor gait, Spastic... |
ORPHA:521406 |
| Urocanase Deficiency |
|
Fair hair, Blue irides, Ataxia, Short stature, Tremor |
OMIM:276880 |
| Keratoderma Hereditarium Mutilans |
|
Abnormality of the nail, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:494 |
| Pili Torti |
|
Abnormality of the nail, Brittle hair, Pili torti, Abnormality of hair texture, Alopecia, Abnorma... |
ORPHA:2889 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Cataract, Sparse body hair, Growth delay, Short stature, Alopecia, Dry skin |
ORPHA:177 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Delayed ossification of carpal bones, Cataract, Short phalanx of finger, Lower limb undergrowth, ... |
OMIM:127200 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Abnormal pyramidal sign, Frequent falls, Focal dystonia, Apraxia, Involuntary movements, Bradykin... |
ORPHA:240103 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor |
OMIM:615362 |
| Multiple Carboxylase Deficiency |
|
Spastic paraparesis, Ataxia, Hyperammonemia, Alopecia, Hearing impairment, Skin rash |
ORPHA:148 |
| Netherton Syndrome |
|
Brittle hair, Parakeratosis, Sparse eyebrow, Erythroderma, Failure to thrive, Allergic rhinitis, ... |
OMIM:256500 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... |
ORPHA:98762 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor |
OMIM:600116 |
| Fraxe Intellectual Disability |
|
Intrauterine growth retardation, Prominent ear helix, Recurrent hand flapping, Short stature, Ste... |
ORPHA:100973 |
| Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Decreased body weight, Cryptorchidism, Cataract, Eczema, Short stature, Postnatal growth retardat... |
OMIM:612947 |
| Lichen Planopilaris |
|
Pruritus, Pterygium, Hypopigmented skin patches, Onycholysis, Hyperkeratosis, Hepatitis, Alopecia... |
ORPHA:525 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Talipes, Finger syndactyly, Absent radius, Absent tibia, Cryptorchidism, Mirror i... |
ORPHA:2378 |
| Sulfite Oxidase Deficiency, Isolated |
|
Choreoathetosis, Generalized dystonia, Ataxia, Fine hair, Elevated circulating creatine kinase co... |
OMIM:272300 |
| Short Syndrome |
|
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Sensorineura... |
ORPHA:3163 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Woolly hair, Sparse lateral eyebrow, Cataract, Fine hair,... |
ORPHA:170 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Brittle hair, Temporal hypotrichosis, Pili torti, Absent eyelashes, Congenital onychodystrophy, S... |
OMIM:602032 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Primary adrenal insufficiency, Elevated circulating luteinizing hormone level, Ovarian cyst, Elev... |
ORPHA:90793 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Patchy alopecia, Hypothyroidism, Failure to thrive in infancy, Eczema, Thyroiditis, Alopecia univ... |
OMIM:606367 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tetraparesis, Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Myoclonus, Tremor |
OMIM:615924 |
| Trichothiodystrophy |
|
Brittle hair, Aplasia/Hypoplasia of the nails, Developmental cataract, Cryptorchidism, Astigmatis... |
ORPHA:33364 |
| Monilethrix |
|
Abnormality of the nail, Patchy alopecia, Brittle hair, Abnormal eyelash morphology, Cataract, Fi... |
ORPHA:573 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Abnormal pyramidal sign, Hypertonia, Dystonia, Parkinsonism, Oculogyric crisis, Oromandibular dys... |
OMIM:613135 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency |
OMIM:300511 |
| Crandall Syndrome |
|
Brittle hair, Pili torti, Sensorineural hearing impairment, Aplasia/Hypoplasia of the eyebrow, Sp... |
ORPHA:202 |
| Juvenile Sialidosis Type 2 |
|
Dysmetria, Low-set ears, Loss of ability to walk, Cataract, Corneal opacity, Lower limb spasticit... |
ORPHA:93399 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Bradykinesia, Postural tremor, Rigidity, Babinski sign, Parkinsonism with favorable res... |
ORPHA:314632 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Trophic changes related to pain, Penetrating foot ulcers, Impaired distal tactile sensation, Inab... |
ORPHA:36386 |
| Acrodermatitis Enteropathica |
|
Abnormality of the nail, Blepharitis, Weight loss, Dry skin, Erythema, Corneal erosion, Cheilitis... |
ORPHA:37 |
| Adrenoleukodystrophy |
|
Incoordination, Primary adrenal insufficiency, Hearing impairment, Spastic paraplegia, Paraparesi... |
OMIM:300100 |
| Premature Ovarian Failure 16 |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... |
OMIM:618723 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Small nail, Patchy alopecia, Coarse hair, Pili torti, Hypoplastic toenails, Sparse eyebrow, Palma... |
OMIM:613573 |
| Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:214450 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Premature pubarche, Micropenis, Absent scrotum, Male pseudohermaphroditism, Ambiguous genitalia, ... |
OMIM:201810 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:1856 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract, Hepatomegaly |
OMIM:607906 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Tubulointer... |
OMIM:263200 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Flared radial metaphysis, Narrow iliac wing, Broad tibial metaphyses, Hypoplasia of proximal radi... |
ORPHA:85170 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Cataract, Ataxia, Growth delay, Spasticity, Tremor |
OMIM:278780 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Lower limb spasticity, Spastic paraplegia, Pes cavus, Clonus, Babinski sign, Tremor |
OMIM:600363 |
| Johnson Neuroectodermal Syndrome |
|
Hypohidrosis, Absent eyelashes, Multiple cafe-au-lait spots, Conductive hearing impairment, Atres... |
ORPHA:2316 |
| Mucolipidosis Type Iii |
|
Hearing abnormality, Short stature, Corneal opacity, Acne |
ORPHA:577 |
| Baralle-Macken Syndrome |
|
Dystonia, Striae distensae, Cataract, Obesity, Inability to walk, Cafe-au-lait spot, Spasticity, ... |
OMIM:619255 |
| Primary Dystonia, Dyt2 Type |
|
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... |
ORPHA:99657 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Intrauterine growth retardation |
ORPHA:1980 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Cataract, Nail dysplasia, Hypocalcemia, Nail dystrophy, Paresthesia, Hyperpigmentati... |
OMIM:175500 |
| Christianson Syndrome |
|
Dystonia, Motor stereotypy, Thick eyebrow, Gait ataxia, Macrotia, Cachexia, Truncal ataxia |
ORPHA:85278 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... |
ORPHA:85188 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe short stature, Severe postnatal growth retardation, Large fleshy ears, Alopecia |
OMIM:203550 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201910 |
| Eiken Syndrome |
|
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Delayed epiphyseal ossificat... |
ORPHA:79106 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Spastic tetraparesis, Coxa valga, Abnormal... |
ORPHA:356961 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Poor coordination, Recurrent hand flapping, Gait ataxia, Posteriorly rotated ears |
OMIM:619717 |
| Orofaciodigital Syndrome Iv |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Micrognathia, Sh... |
OMIM:258860 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... |
ORPHA:166011 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... |
OMIM:601560 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Corneal opacity, Intrauterine growth retardation |
ORPHA:2370 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Primary adrenal insufficiency, Hypopigmented skin patches, Cataract, Decreased circulating aldost... |
ORPHA:3453 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Genu valgum, Hypospadias |
ORPHA:1381 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Paroxysmal dystonia, Myoclonus, Tremor |
OMIM:608105 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Sensorineural hearing impairment, Erythema,... |
ORPHA:659 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melanin pigment aggrega... |
OMIM:607624 |
| Behr Syndrome |
|
Achilles tendon contracture, Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Tremor |
OMIM:210000 |
| Endocrine-Cerebroosteodysplasia |
|
Brachydactyly, Enlarged kidney, Micropenis, Sandal gap, Preaxial polydactyly, Micrognathia, Polyd... |
OMIM:612651 |
| 4Q21 Microdeletion Syndrome |
|
Generalized hirsutism, Intrauterine growth retardation, Low-set ears, Long eyelashes, Motor stere... |
ORPHA:238750 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... |
OMIM:607671 |
| Biotinidase Deficiency |
|
Recurrent skin infections, Sensorineural hearing impairment, Ataxia, Seborrheic dermatitis, Alope... |
OMIM:253260 |
| Corticobasal Syndrome |
|
Parkinsonism, Dystonia, Involuntary movements, Bradykinesia, Limb apraxia, Limb dystonia, Speech ... |
ORPHA:454887 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Long toe, Ureteral duplication, Abnormal foot morphology, Cataract, Tapered fing... |
OMIM:608836 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Hemolytic anemia, Dystonia, Tremor |
OMIM:615010 |
| Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Abnormality of retinal pigmentation, Cataract, Corneal opacity, ... |
ORPHA:290 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Tremor, Myoclonus, Hypertonia |
OMIM:261630 |
| Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Impaired pain sensation, Growth delay, Synophrys, Gait disturbance, ... |
ORPHA:505652 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Long foot, Enlarged kidney, Bifid ureter, Renal malrotation, Cataract,... |
ORPHA:500095 |
| Atypical Rett Syndrome |
|
Dystonia, Pill-rolling tremor, Apraxia, Impaired pain sensation, Involuntary movements, Stereotyp... |
ORPHA:3095 |
| Sialidosis Type 2 |
|
Corneal opacity, Ataxia, Short stature, Hearing impairment, Tremor |
ORPHA:87876 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Cataract, Nail dystrophy, Alopecia totalis, Lack of skin elasticity |
ORPHA:1366 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Brachydactyly, Coxa valga, Cataract, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia |
OMIM:132450 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Action tremor, Ataxia, Gait ataxia, Dysdiadochokinesis, Limb ataxia |
OMIM:616291 |
| Sialidosis Type 1 |
|
Sensorineural hearing impairment, Cataract, Corneal opacity, Ataxia, Hyperkeratosis, Short statur... |
ORPHA:812 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypothyroidism, Primary adrenal insufficiency, Vitiligo, Iridocyclitis, Pigmentary retinopathy, A... |
OMIM:240300 |
| Cronkhite-Canada Syndrome |
|
Patchy alopecia, Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of th... |
ORPHA:2930 |
| Ophthalmomandibulomelic Dysplasia |
|
Coxa valga, Fibular hypoplasia, Ulnar deviated club hands, Lateral humeral condyle aplasia, Opaci... |
OMIM:164900 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Waardenburg Syndrome, Type 4A |
|
Premature graying of hair, White eyebrow, Heterochromia iridis, Hypopigmented skin patches, Senso... |
OMIM:277580 |
| Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... |
OMIM:617319 |
| Phenylketonuria |
|
Fair hair, Cataract, Blue irides, Eczema, Maternal hyperphenylalaninemia, Generalized hypopigment... |
OMIM:261600 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Long eyelashes, Prominent ear helix, Thick eyebrow, Motor stereotypy, Inability to... |
ORPHA:411986 |
| Johnson Neuroectodermal Syndrome |
|
Hypohidrosis, Absent eyelashes, Multiple cafe-au-lait spots, Conductive hearing impairment, Atres... |
OMIM:147770 |
| Tyrosinemia Type 2 |
|
Abnormality of the nail, Palmoplantar keratoderma, Corneal opacity, Ataxia, Hyperkeratosis, Hyper... |
ORPHA:28378 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Short palm, Cone-shaped epiphyses of the phalanges of the hand, Cataract, Hypoplasia of the odont... |
ORPHA:85172 |
| Jaberi-Elahi Syndrome |
|
Dysmetria, Dystonia, Choreoathetosis, Low-set ears, Cataract, Sparse eyebrow, Inability to walk, ... |
OMIM:617988 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Gonadotropin deficiency, Delayed puberty, Hypopigmentation of the skin, Obesity, Central adrenal ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Gonadotropin deficiency, Delayed puberty, Hypopigmentation of the skin, Obesity, Central adrenal ... |
ORPHA:71526 |
| Omenn Syndrome |
|
Hypoproteinemia, Pneumonia, Erythroderma, Failure to thrive, Alopecia, Hypoplasia of the thymus |
OMIM:603554 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic gait, Dystonia, Resting tremor, Parkinsonism, Choreoathetosis, Apraxia, Spastic tetrapleg... |
OMIM:300055 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Dysmetria, Ataxia, Gait ataxia, Pes cavus, Spasticity, Limb ataxia, Tremor |
OMIM:213200 |
| Chilblain Lupus |
|
Pruritis on hand, Hyperkeratosis, Malar rash, Discoid lupus rash, Inflammatory abnormality of the... |
ORPHA:90280 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Absent pubic hair, Sparse eyebrow, Cutis laxa, Unsteady gait, Scaling... |
ORPHA:2269 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short metacarpal, Cataract, Short thumb |
ORPHA:2489 |
| Fucosidosis |
|
Abnormality of the nail, Hypothyroidism, Abnormal pyramidal sign, Generalized hyperkeratosis, Spa... |
ORPHA:349 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Short palm, Small hand, Dysdiadochokinesis, Truncal ataxia, Short foot, Tremor |
OMIM:610185 |
| Menkes Disease |
|
Brittle hair, Intrauterine growth retardation, Hypopigmentation of the skin, Decreased circulatin... |
OMIM:309400 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Ataxia, Short stature, Posteriorly rotated ears, Alopecia, Opacification of the cor... |
OMIM:601853 |
| Femoral-Facial Syndrome |
|
Abnormality of pelvic girdle bone morphology, Preaxial foot polydactyly, Abnormality of fibula mo... |
ORPHA:1988 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Glomerulonephritis, Eczema, Erythroderma, Failure to thrive, Hepatitis, Alopecia,... |
OMIM:304790 |
| Monilethrix |
|
Brittle hair, Perifollicular hyperkeratosis, Nail dysplasia, Nail dystrophy, Abnormality of hair ... |
OMIM:158000 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Decreased serum zinc, Decreased plasma total carnitine, Recurrent skin infections, Gastrointestin... |
ORPHA:79408 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Spastic tetraparesis, Cataract, Growth delay, Highly arched eyebrow, Spasticity, Macrotia |
OMIM:616154 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Pes cavus, Abnormal foot morphology, Ankle flexion contracture, Tremor |
OMIM:616668 |
| Parkinson Disease 14, Autosomal Recessive |
|
Parkinsonism, Dystonia, Apraxia, Bradykinesia, Rigidity, Spasticity, Clumsiness, Tremor |
OMIM:612953 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin, Short stature, Pallor |
ORPHA:2786 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Palmoplantar keratoderma, Hypohidrosis, Orthokeratosis, Parakeratosis, Hyperkeratosis, Erythroder... |
OMIM:612281 |
| Prolidase Deficiency |
|
Generalized hirsutism, Pruritus, Palmoplantar keratoderma, Abnormality of retinal pigmentation, W... |
ORPHA:742 |
| Nicolaides-Baraitser Syndrome |
|
Long eyelashes, Cryptorchidism, Severe short stature, Abnormal hair pattern, Highly arched eyebro... |
ORPHA:3051 |
| Congenital Sialidosis Type 2 |
|
Dysmetria, Developmental cataract, Petechiae, Low-set ears, Cataract, Corneal opacity, Ataxia, Sp... |
ORPHA:93400 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Dysmetria, Dystonia, Ataxia, Gait ataxia, Limb ataxia, Dysdiadochokinesi... |
OMIM:617145 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Upper limb spasticity, Tremor, Overweight, Short stature, Macrotia, Gait distur... |
ORPHA:457240 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Cataract, Hepatomegaly |
OMIM:614876 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Cryptorchidism, Mesomelic leg shortening, Micrognathia, Hypoplastic iliac win... |
OMIM:609945 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail pits, Nail dystrophy |
OMIM:601705 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Chanarin-Dorfman Syndrome |
|
Subcapsular cataract, Sensorineural hearing impairment, Microtia, Ataxia, Alopecia |
OMIM:275630 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Tremor |
OMIM:616710 |
| Dermatitis, Atopic |
|
Pruritus, Recurrent skin infections, Dry skin, Cataract, Facial erythema, Eczema, Allergic rhinit... |
OMIM:603165 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Severe sensorineural hearing impairment, Numerous pigmented freckles, Microcornea, White forelock... |
OMIM:601706 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Decreased glomerular fil... |
ORPHA:730 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Woolly hair, Spastic diplegia, Sparse eyebrow, Craniofacial dystonia, Cutis laxa, Trichorrhexis n... |
OMIM:619691 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Cataract, Abnormality of the kidney, Hepatomegaly |
OMIM:613730 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Polycystic ovaries, Multiple cafe-au-lait sp... |
ORPHA:100 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic gait, Sensorineural hearing impairment, Cataract, Spastic paraplegia, Impaired vibration ... |
OMIM:270800 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Ectopia lentis, Primary congenital glaucoma |
OMIM:613086 |
| Pachydermoperiostosis |
|
Palmoplantar keratoderma, Arthritis, Abnormal hair pattern, Elevated circulating growth hormone c... |
ORPHA:2796 |
| Pachyonychia Congenita |
|
Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Onychogryposis of fingernail, Angular cheil... |
ORPHA:2309 |
| Aniridia And Absent Patella |
|
Cataract, Aniridia, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer, Chilblains |
OMIM:610448 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Hypergonadotropic hypogonadism, Abnormality of the uterus, Premature ovarian ... |
OMIM:300510 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor |
OMIM:612126 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Abnormal circulating serine concentration, Hypercho... |
ORPHA:470 |
| Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Skin ulcer, Nail dysplasia, Nail dystrophy |
OMIM:221810 |
| Acheiropodia |
|
Abnormality of epiphysis morphology, Absent radius, Aplasia of the ulna, Fibular aplasia, Abnorma... |
ORPHA:931 |
| Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Failure to thrive, Dry skin, Hypoalbuminemia |
ORPHA:1954 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Limb dysmetria, Truncal ataxia, Myoclonus, Tremor |
ORPHA:363710 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Abnormal pyramidal sign, Spastic tetraplegia, Cryptorchidism, Sensorine... |
ORPHA:2719 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic gait, Upper limb spasticity, Cataract, Upper limb dysmetria, Head tremor, Impaired vibrat... |
OMIM:614409 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hypohidrosis, Abnormal helix morphology, Intrauterine growth retardation, Severe short stature, A... |
ORPHA:1005 |
| Hereditary Mucoepithelial Dysplasia |
|
Corneal dystrophy, Cataract, Fine hair, Hyperkeratosis, Alopecia, Sparse hair |
ORPHA:1839 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Talipes, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal e... |
ORPHA:95699 |
| Gm1 Gangliosidosis |
|
Generalized hirsutism, Dystonia, Generalized dystonia, Low-set ears, Infectious encephalitis, Cor... |
ORPHA:354 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Hammertoe, Ataxia, Gait ataxia, Pes cavus, Tremor |
OMIM:618387 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Sclerocornea, Microcornea, Cataract, Corneal opacity... |
ORPHA:2557 |
| Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... |
OMIM:116200 |
| Morm Syndrome |
|
Micropenis, Cataract, Abnormality of the kidney |
ORPHA:75858 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Tremor |
OMIM:619651 |
| Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Heterochromia iridis, Hypopigmented skin pat... |
ORPHA:895 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Ataxia, Pes cavus, Myoclonus, Tremor |
OMIM:612016 |
| Cystinosis |
|
Hypothyroidism, Hypokalemia, Abnormal pyramidal sign, Delayed puberty, Motor stereotypy, Corneal ... |
ORPHA:213 |
| Microphthalmia With Limb Anomalies |
|
Abnormal thumb morphology, Fibular hypoplasia, Cryptorchidism, Sandal gap, Clinodactyly of the 5t... |
ORPHA:1106 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... |
OMIM:202010 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormality of the nail, Hypohidrosis, Dry skin, Inflammatory abnormality of the eye, ... |
ORPHA:238468 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Intrauterine growth retardation, Poor coordination, Recurrent hand flapping, Short stature, Stere... |
OMIM:309548 |
| Microcephaly-Micromelia Syndrome |
|
Absent radius, Oligodactyly, Micrognathia, Micromelia, Short tibia, Humeroradial synostosis, Fore... |
OMIM:251230 |
| Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Secretory adrenocorti... |
ORPHA:404 |
| Bresek Syndrome |
|
Intrauterine growth retardation, Low-set ears, Cryptorchidism, Alopecia, Growth delay, Protruding... |
ORPHA:85284 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Missing ribs, Cystic renal dysplasia, Nephrogenic rest, Hammertoe, Micrognathia,... |
OMIM:608022 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Male pseudohermaphroditism, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90791 |
| Myoclonic-Atonic Epilepsy |
|
