| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Absent Achilles reflex, Babinski sign |
OMIM:311050 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Syndactyly Type 4 |
|
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... |
ORPHA:93405 |
| 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 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor, Pes cavus, Palmoplantar hyperkeratosis |
OMIM:309560 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... |
OMIM:201250 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... |
OMIM:200700 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Limb undergrowth, Short long bo... |
OMIM:118651 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... |
OMIM:112910 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Tibial Torsion, Bilateral Medial |
|
Abnormality of tibia morphology, Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Erythrokeratodermia Variabilis |
|
Skin rash, Abnormality of the nail, Irregular hyperpigmentation, Patchy palmoplantar hyperkeratos... |
ORPHA:317 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Acrocapitofemoral Dysplasia |
|
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... |
OMIM:607778 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Ectrodactyly, Aplasia/Hypoplasia of the ulna, ... |
ORPHA:1986 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Hypohidrosis, Pruritus, Abnormality of the nail, Palmoplantar keratoderma, Corneal erosion, Eryth... |
ORPHA:79394 |
| Acheiropody |
|
Absent hand, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Short humerus, Perom... |
OMIM:200500 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Mesomelia, Hypoplasia of the ulna, S... |
OMIM:249700 |
| Aniridia 3 |
|
Cataract |
OMIM:617142 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Pes cavus |
OMIM:158580 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Short thumb |
OMIM:274205 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Lethal Faciocardiomelic Dysplasia |
|
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... |
ORPHA:1972 |
| Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Talipes equinovalgus, Mesomelia, Short tibia, Hip dislocation, Fibular ap... |
OMIM:605274 |
| Leri-Weill Dyschondrosteosis |
|
Radial bowing, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal mor... |
OMIM:127300 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Fibular Hemimelia |
|
Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of fibula morphology,... |
ORPHA:93323 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Tremor, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Pes cavus, Rigidity |
OMIM:617018 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Tremor, Myoclonus |
OMIM:611092 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Metaphyseal chondrodysplasia, Babinski sign |
OMIM:300660 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the radius, Short femur, Lytic defects of humeral diaphysis, Hypoplasia of the ulna... |
OMIM:601376 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Generalized hyperkeratosis, Thin fingernail, Palmoplantar keratoderma, Erythema, Dry skin, Hyperh... |
ORPHA:495 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Sparse axillary hair, Sparse scalp hair, Sparse pubic hair, Alopecia, Perifollicular hy... |
ORPHA:505 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... |
ORPHA:240 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... |
ORPHA:3332 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the tibial metaphysis, Abnormality of the proximal tibial... |
ORPHA:2768 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of extrapyra... |
OMIM:260300 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Pes planus, Pes cavus, Fasciculations, Hammertoe, Calf muscle hypertrophy |
OMIM:615048 |
| Zinc Deficiency, Transient Neonatal |
|
Eczema, Decreased serum zinc, Alopecia |
OMIM:608118 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... |
OMIM:135750 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Alopecia, Sparse hair, Ataxia |
OMIM:212835 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... |
ORPHA:2722 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity, Ataxia, Low-set ears, Alopecia of scalp, Toenail dysplasia, Short stature, Impai... |
ORPHA:1532 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormality of epiphysis morphology, Cataract, Lower limb undergrowth, Abnormality of femur morph... |
ORPHA:2310 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Skeletal Defects, Genital Hypoplasia, And Mental Retardation |
|
Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent... |
OMIM:612447 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Developmental cataract, Gait ataxia, Incoordination, Fair hair, Increased LDL cholesterol concent... |
OMIM:618808 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Ulnar bowing, Short forearm |
OMIM:127350 |
| Oliver-Mcfarlane Syndrome |
|
Cryptorchidism, Central heterochromia, Sparse hair, Pigmentary retinopathy, Long eyelashes, Sever... |
OMIM:275400 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
OMIM:614561 |
| Kerion Celsi |
|
Recurrent skin infections, Recurrent cutaneous abscess formation, Alopecia, Inflammatory abnormal... |
ORPHA:499 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Abnormal foot morphology |
OMIM:614369 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar hyperke... |
ORPHA:1010 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Hyperkeratosis, Ataxia, Alopecia of scalp, Cataract... |
OMIM:136300 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Cataract, Sensorineural he... |
ORPHA:2815 |
| Hypotrichosis 4 |
|
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes |
OMIM:146550 |
| Olmsted Syndrome 1 |
|
Pruritus, Sparse hair, Palmoplantar keratoderma, Corneal opacity, Nail dysplasia, Subungual hyper... |
OMIM:614594 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hypohidrosis, Growth delay, Nail dysplasia, Cataract, Erysipelas, Delayed puberty, Alopecia, Elev... |
OMIM:615704 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Ataxia, Progressive cerebellar ataxia, Upper motor neuron dysfunction, Corneal d... |
ORPHA:3177 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Absent tibia, Split hand, Aplasia of the ulna, Foot monodactyly, Hand monodactyly, Bifid femur |
OMIM:228250 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Abnormality of skin pigmentation, Sparse hair, Ataxia, Failure to thrive, Alopecia, Intrauterine ... |
OMIM:616353 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... |
ORPHA:988 |
| Hypotrichosis Simplex |
|
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... |
ORPHA:55654 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia of scalp, Perifolliculitis, Alopecia |
OMIM:260910 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Hemiballismus |
ORPHA:494526 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Alopecia Areata 1 |
|
Nail pits, Trachyonychia, Alopecia totalis, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Slc39A8-Cdg |
|
Inability to walk, Hypomanganesemia, Dystonia, Failure to thrive in infancy, Low-set ears, Hearin... |
ORPHA:468699 |
| Bathing Suit Ichthyosis |
|
Hypohidrosis, Sparse hair, Erythroderma, Impaired temperature sensation, Scaling skin, Alopecia, ... |
ORPHA:100976 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Hypotrichosis 5 |
|
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes |
OMIM:612841 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Periodontitis, Melanocytic nevus, Sparse scalp hair, Hearing impairm... |
ORPHA:1008 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Postaxial hand polydactyly, Short femur, Preaxial hand polydactyly, Abnormality of femur morpholo... |
ORPHA:3329 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of skin pigmentation, Hypohidrosis, Sparse hair, Abnormal fingernail morphology, Hype... |
ORPHA:1806 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis |
OMIM:610753 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Hypothyroidism, Posteriorly rotated ears, Low-set ears, Sensorineural hearing impair... |
OMIM:617763 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Absent eyelashes, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Scarring alopecia of sc... |
OMIM:602540 |
| Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss |
|
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... |
OMIM:617294 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hearing impairment, Ab... |
ORPHA:42665 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic arm shortening, Prominent calcaneus, Fibular aplasia, Oligodactyly, Tarsal synostosis, ... |
ORPHA:2756 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Upp... |
ORPHA:101110 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased plasma carnitine, Absent toenail, Abnormal circulating selenium concentration, Irregula... |
ORPHA:89842 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Trichothiodystrophy 1, Photosensitive |
|
Freckling, Small nail, Sparse hair, Hyperkeratosis, Erythroderma, Tiger tail banding, Cataract, D... |
OMIM:601675 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Sensorineural hearing impairment, Cachexia, Short stature, Alopecia |
ORPHA:2574 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hypohidrosis, Cryptorchidism, Absent eyelashes, Erythroderma, Scaling skin, Absent eyebrow, Nail ... |
OMIM:308205 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Abnormality of the lower limb, Developmental cataract, Progressive cataract, Duplication involvin... |
OMIM:246000 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Hypotrichosis 11 |
|
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... |
OMIM:615059 |
| Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Cataract, Failure to thrive, Stereotypy, Spasticity |
OMIM:617393 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Small hand, Abnormal hand morphology, Short foot |
OMIM:300261 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Flared metaphysis, Flattened epiphysis, Genu varum, Shor... |
ORPHA:93356 |
| Pili Torti-Onychodysplasia Syndrome |
|
Trichodysplasia, Absent eyelashes, Congenital onychodystrophy, Palmoplantar keratoderma, Absent e... |
ORPHA:2890 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Ataxia, Pes cavus, Myoclonus, Babinski sign, Fasciculations, Frequent falls,... |
OMIM:607317 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:168100 |
| Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Periodontitis, Congenital alopecia totalis, Alopecia universalis |
OMIM:104130 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Developmental cataract, Facial erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyspla... |
OMIM:212360 |
| Lamellar Ichthyosis |
|
Pruritus, Abnormality of the nail, Sparse hair, Hyperkeratosis, Erythroderma, Chronic otitis medi... |
ORPHA:313 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Alopecia Universalis |
|
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow |
ORPHA:701 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Cogwheel rigidity, Gait ataxia, Incoordination, Parkinsonism... |
OMIM:128230 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Erythroderma, Conjunctivitis, Sensorineural hearing impairment, Alopecia, Failure to... |
OMIM:242150 |
| Classic Mycosis Fungoides |
|
Skin rash, Pruritus, Abnormality of the nail, Irregular hyperpigmentation, Hyperkeratosis, Erythe... |
ORPHA:2584 |
| Dysequilibrium Syndrome |
|
Gait disturbance, Ataxia, Cataract, Short stature, Cerebral palsy |
ORPHA:1766 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Absent tibia, Split hand, Hand monodactyly, Split foot, Patellar aplasia, Aplasia o... |
OMIM:119100 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Parkinson Disease 17 |
|
Tremor, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614203 |
| Ulerythema Ophryogenesis |
|
Abnormal eyebrow morphology, Erythema, Follicular hyperkeratosis, Alopecia, Inflammatory abnormal... |
ORPHA:3406 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Pes cavus, Babinski sign, Dysmetria |
OMIM:607458 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Ridged fingernail, Fingernai... |
ORPHA:2251 |
| Clouston Syndrome |
|
Small nail, Onycholysis, Palmoplantar hyperkeratosis, Absent pubic hair, Absent axillary hair, Sl... |
OMIM:129500 |
| Thumb Deformity And Alopecia |
|
Short stature, Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Flynn-Aird Syndrome |
|
Progressive sensorineural hearing impairment, Primary adrenal insufficiency, Ataxia, Cataract, Ca... |
ORPHA:2047 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Hyporeflexia of lower limbs, Progressive cerebellar ataxia, Myo... |
ORPHA:98763 |
| L-Ferritin Deficiency |
|
Decreased circulating ferritin concentration, Alopecia |
OMIM:615604 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Polydactyly, Absent tibia |
OMIM:188740 |
| Trichothiodystrophy 3, Photosensitive |
|
Erythroderma, Tiger tail banding, Cataract, Brittle hair, Short stature |
OMIM:616395 |
| Tibial Hemimelia |
|
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... |
ORPHA:93322 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Esophagitis, Dermal translucency, Growth delay, Decreased serum zinc, Sensorineural hearing impai... |
ORPHA:541423 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Spotty hypopigmentation, Hyperkeratotic papule, Mixed hypo- and hyperpigmen... |
ORPHA:79397 |
| Bardet-Biedl Syndrome 18 |
|
Cataract, Brachydactyly |
OMIM:615995 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Sparse hair, Alopecia, Dystrophic toenail |
OMIM:614928 |
| Du Pan Syndrome |
|
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Talipes equinovalgus, Bra... |
OMIM:228900 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Babinski sign, Spasticity |
OMIM:615768 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Hand monodactyly, Split foot, Split hand |
OMIM:183800 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... |
OMIM:116200 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Developmental cataract, Elevated levels of phytanic acid, Rhizomelia, Severe short stature, Senso... |
OMIM:215100 |
| N-Acetylaspartate Deficiency |
|
Truncal ataxia, Decreased body weight, Unsteady gait, Short stature, Stereotypy |
OMIM:614063 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Classic Phenylketonuria |
|
Hemiplegia, Tremor, Hypopigmentation of hair, Hypertonia, Hyperphenylalaninemia, Growth delay, Ca... |
ORPHA:79254 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Dystonia 27 |
|
Postural tremor, Action tremor |
OMIM:616411 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Cataract, Small for gestational age, Short stature, Hyperactivity |
ORPHA:85288 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hypohidrosis, Sparse hair, Hyperkeratosis, Curly hair, Corneal opacity, Sparse and thin eyebrow, ... |
OMIM:602400 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Triphalangeal thumb, Oligodactyly, Overlapping toe, Fibular hypoplasia, Clinodactyly, 11 pairs of... |
OMIM:201170 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Short middle phalanx of finger, Metaphys... |
OMIM:156500 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal ... |
ORPHA:1067 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Leg muscle stiffness, Spastic ataxia, Limb ataxia, Hypertonia, Spasti... |
ORPHA:251282 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Sp... |
OMIM:270500 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Hypohidrosis, Abnormal hair morphology, Dry skin, Alopecia, Abnormal toenail morphology, Fine hai... |
ORPHA:248 |
| Alopecia Totalis |
|
Alopecia of scalp, Alopecia |
ORPHA:700 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Sparse hair, Alopecia |
OMIM:203600 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Alopecia |
OMIM:203655 |
| Sézary Syndrome |
|
Pruritus, Tremor, Irregular hyperpigmentation, Palmoplantar keratoderma, Erythroderma, Alopecia, ... |
ORPHA:3162 |
| Cataract 9, Multiple Types |
|
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract |
OMIM:604219 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Melanocytic nevus, Central adrenal insufficiency, Adrenal insufficiency, Delayed puberty, Hyperpi... |
OMIM:612079 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Poor fine motor coordination, Abnormal pyramidal sign, Ataxia, B... |
ORPHA:98762 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
ORPHA:79262 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| X-Linked Agammaglobulinemia |
|
Skin rash, Recurrent pneumonia, Hypocalcemia, Chronic otitis media, Weight loss, Hypopigmented sk... |
ORPHA:47 |
| Tibia, Absence Of, With Congenital Deafness |
|
Absent tibia |
OMIM:275230 |
| Pseudoprogeria Syndrome |
|
Sparse hair, Absent eyelashes, Progressive spastic quadriplegia, Growth delay, Absent eyebrow, De... |
ORPHA:2985 |
| Parc Syndrome |
|
Alopecia, Absent eyelashes, Absent eyebrow |
OMIM:600331 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:615528 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Narrow iliac wing, Mesomelia, Glenoid fossa hy... |
ORPHA:85170 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
| Acheiropodia |
|
Absent hand, Upper limb phocomelia, Abnormality of epiphysis morphology, Aplasia of the ulna, Sho... |
ORPHA:931 |
| Mental Retardation, Autosomal Recessive 39 |
|
Anteverted ears, Macrotia, Synophrys, Stereotypy, Hyperactivity, Short stature |
OMIM:615541 |
| Familial Reactive Perforating Collagenosis |
|
Pruritus, Hyperkeratotic papule, Perifolliculitis, Maculopapular exanthema, Abnormality of the pi... |
ORPHA:79147 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... |
OMIM:228930 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Facial erythema, Palmoplantar keratoderma, Scarring alopecia of scalp, Nail dysplas... |
OMIM:612843 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Pes cavus, Babinski sign, Clonus |
OMIM:600363 |
| Hidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Onycholysis, Sparse hair, Palmoplantar keratoderma, Hyperconvex nail... |
ORPHA:189 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse hair, Erythroderma, Elevated 8-dehydrocholesterol, Abnormality of the pinna, Postnatal gro... |
OMIM:302960 |
| Deafness-Craniofacial Syndrome |
|
Hearing impairment, Alopecia |
OMIM:125230 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... |
OMIM:113310 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Action tremor, Craniofacial dystonia, Torticollis, G... |
ORPHA:98807 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Short stature, Ataxia |
OMIM:617862 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Micromelia |
OMIM:273680 |
| Behr Syndrome |
|
Tremor, Ataxia, Achilles tendon contracture, Dysmetria, Babinski sign, Progressive spasticity |
OMIM:210000 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyelashes, Hyperkeratosis, Hypothyroidism, Recurrent otitis media, Absent eye... |
OMIM:618625 |
| Stuve-Wiedemann Syndrome |
|
Short phalanx of finger, Micrognathia, Femoral bowing, Thickened cortex of long bones, Short long... |
OMIM:601559 |
| Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Delayed ossification of carpal bones, Cataract, Lower limb undergrowth, ... |
OMIM:127200 |
| Cataract 15, Multiple Types |
|
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract |
OMIM:615274 |
| Galactosialidosis |
|
Hearing impairment, Corneal opacity |
ORPHA:351 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Hypopigmentation of hair, Premature graying of hair, Hypertonia, Ataxia, Generalized hype... |
ORPHA:33445 |
| Megalocornea |
|
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... |
OMIM:309300 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Patchy alopecia, Recurre... |
ORPHA:346 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Hyperpigmentation of the skin, Severe short stature |
OMIM:302000 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cryptorchidism, Highly arched eyebrow, Hypertonia, Low-set ears, Small for gestational age, Stere... |
ORPHA:352490 |
| Apolipoprotein A-I Deficiency |
|
Hemiplegia/hemiparesis, Corneal opacity, Decreased HDL cholesterol concentration |
ORPHA:425 |
| Chromosome 3Q29 Deletion Syndrome |
|
Gait ataxia, Macrotia, Posteriorly rotated ears, Low-set ears, Small for gestational age, Stereot... |
OMIM:609425 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Growth delay, Perioral eczema, Weight loss, Ataxia, Alopecia, Eczema, Hyperammonemia, K... |
ORPHA:79242 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypohidrosis, Hypothyroidism, Melanocytic nevus, Sparse scalp hair, Sparse and thin eyebrow, Alop... |
ORPHA:1882 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Erythroderma, Hypertonia, Scaling skin, Ataxia, Failure to thrive, Dry skin |
OMIM:609180 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Action tremor, Intention tremor, Frequent falls, Spastic dysarthria, ... |
ORPHA:314978 |
| Trichodysplasia-Xeroderma Syndrome |
|
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... |
ORPHA:3361 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypohidrosis, Small nail, Abnormal hair morphology, Palmoplantar keratoderma, Hyperkeratosis, Gro... |
OMIM:242100 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash |
OMIM:601979 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Abnormality of extrapyramidal motor function, Gait disturbance, Ataxia, Babinski sign, Alopecia, ... |
OMIM:600142 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Short proximal phalanx of thumb, Short middle phalanx of finger, Short proximal phalanx of hallux... |
OMIM:251190 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Netherton Syndrome |
|
Skin rash, Irregular hyperpigmentation, Abnormal hair morphology, Erythroderma, Sparse scalp hair... |
ORPHA:634 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Parkinsonism, Rigidity, Bradykinesia |
OMIM:600116 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Postural tremor, Truncal ataxia, Iridocyclitis, Speech apraxia, Head tremor, Limb ataxia, Hypothy... |
ORPHA:412057 |
| Copper Deficiency, Familial Benign |
|
Seborrheic dermatitis, Abnormal circulating copper concentration, Decreased circulating copper co... |
OMIM:121270 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Truncal ataxia, Dysmetria |
OMIM:616127 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Ataxia, Spasticity |
OMIM:615889 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Congenital abnormal hair pattern, Cryptorchidism, Atrichia, Spotty hypopigmentation, Growth delay... |
ORPHA:1867 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Palmoplantar keratoderma, Acantholysis, Erythroderma, Hypernatremia, Growth delay, O... |
OMIM:615508 |
| Corneodermatoosseous Syndrome |
|
Onycholysis, Erythroderma, Short stature, Corneal dystrophy, Palmoplantar hyperkeratosis |
OMIM:122440 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Pes cavus, Abnormal foot morphology, Ankle flexion contracture |
OMIM:616668 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Pes cavus, Ataxia, Spasticity |
OMIM:278780 |
| Pityriasis Rubra Pilaris |
|
Pruritus, Pustule, Abnormality of the nail, Irregular hyperpigmentation, Palmoplantar keratoderma... |
ORPHA:2897 |
| Alopecia-Mental Retardation Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Mental Retardation Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| Alopecia-Mental Retardation Syndrome 1 |
|
Alopecia universalis |
OMIM:203650 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Oromotor apraxia, Overweight, Hypoplastic helices, Hypothyroidism, Recurrent otitis media, Decrea... |
ORPHA:391372 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Pes cavus, Dysmetria, Spasticity |
OMIM:213200 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Hyperkeratosis, Erythroderma, Weight loss, Conjunctival hamartoma, Skin... |
ORPHA:312 |
| Ichthyosis With Confetti |
|
Hyperkeratosis, Erythroderma, Hypertrichosis, Palmoplantar hyperkeratosis |
OMIM:609165 |
| Alopecia-Intellectual Disability Syndrome |
|
Macrotia, Growth delay, Sparse scalp hair, Hearing impairment, Alopecia, Aplasia/Hypoplasia of th... |
ORPHA:2850 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Sparse hair, Erythroderma, Nail dysplasia, Alopecia, Parakeratosis, Nail dystrophy, Palmoplantar ... |
OMIM:242300 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Patchy alopecia |
OMIM:247100 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Microcornea, Corneal opacity |
ORPHA:2432 |
| Incontinentia Pigmenti |
|
Abnormality of skin pigmentation, Skin rash, Irregular hyperpigmentation, Ridged fingernail, Corn... |
ORPHA:464 |
| Eiken Syndrome |
|
Short toe, Short phalanx of finger, Metaphyseal irregularity, Short foot, Fibular hypoplasia, Abs... |
ORPHA:79106 |
| Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Decreased testicular size, Woolly hair, Woolly scalp hair, Alopecia |
OMIM:601217 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
| Immunodeficiency 51 |
|
Folliculitis, Pustule, Cutaneous abscess, Chronic oral candidiasis, Recurrent otitis media, Recur... |
OMIM:613953 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Uncombable hair, Colitis, Decreased serum iron, Hepatitis, Small for gestational age... |
OMIM:614602 |
| Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis |
OMIM:159900 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Delayed pubic bone ossification, Abnormal hip joint morpholo... |
ORPHA:1856 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... |
OMIM:617319 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... |
OMIM:601560 |
| Kid Syndrome |
|
Hypohidrosis, Cryptorchidism, Recurrent bacterial skin infections, Erythema, Sensorineural hearin... |
ORPHA:477 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Hurler-Scheie Syndrome |
|
Abnormal pyramidal sign, Corneal opacity, Sensorineural hearing impairment, Rhinitis, Short statu... |
ORPHA:93476 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Otitis externa, Perioral erythema, Erythroderma, Paronychia, Failure to thrive, Perianal... |
OMIM:614328 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... |
ORPHA:2885 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Short phalanx of finger, Cataract, Epiphyseal dysplasia, Brachydactyly, Coxa valga |
OMIM:132450 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Pes cavus, Myoclonus |
OMIM:612016 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Gait disturbance, Foot osteomyelitis, Acral ulceration, Babinski sign, Impair... |
ORPHA:139578 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
| Omenn Syndrome |
|
Pruritus, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Hypothyroidism, Erythroderma, Pneumonia... |
ORPHA:39041 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Myoclonus |
ORPHA:363710 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Tremor, Truncal ataxia, Small hand, Dysmetria, Short foot, Short palm |
OMIM:610185 |
| Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Pruritus, Atopic dermatitis, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candid... |
OMIM:618282 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperphenylalaninemia, Fair hair, Cataract, Hyperactivity, Eczema... |
OMIM:261600 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Eye poking, Pigmentary retinopathy, Growth delay, Hyperthreoninemia, Cataract, Senso... |
OMIM:204000 |
| Renpenning Syndrome |
|
Macrotia, Growth delay, Thin eyebrow, Iris coloboma, Severe short stature, Abnormal hair laborato... |
ORPHA:3242 |
| Alg2-Cdg |
|
Cataract, Iris coloboma |
ORPHA:79326 |
| Multiple Carboxylase Deficiency |
|
Skin rash, Lethargy, Spastic paraparesis, Ataxia, Hearing impairment, Alopecia, Hyperammonemia |
ORPHA:148 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Pes cavus, Dysmetria, Hammertoe |
OMIM:618387 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyki... |
ORPHA:314632 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cataract, Short thumb, Short metacarpal |
ORPHA:2489 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Attention deficit hyperactivity disorder, Ataxia |
OMIM:618709 |
| Fraxe Intellectual Disability |
|
Clumsiness, Intrauterine growth retardation, Prominent ear helix, Recurrent hand flapping, Hypera... |
ORPHA:100973 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Sparse eyebrow, Sparse hair, Palmoplantar keratoderma, Leukonychia, Epidermal hyperkeratosis, Pal... |
OMIM:104100 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Partial albinism, Red hair |
OMIM:203290 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the odontoid process, Cataract,... |
ORPHA:85172 |
| Keratoderma Hereditarium Mutilans |
|
Abnormality of the nail, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Hearing impairmen... |
ORPHA:494 |
| Orofaciodigital Syndrome Iv |
|
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... |
OMIM:258860 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia, Megalocornea, Opac... |
OMIM:164900 |
| Trichodysplasia-Xeroderma |
|
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... |
OMIM:190360 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Juvenile cataract, Failure to thrive, Spasticity |
ORPHA:500545 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Hypertonia, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Small hand, Short foot, ... |
OMIM:617435 |
| Adrenoleukodystrophy |
|
Spastic paraplegia, Incoordination, Truncal ataxia, Impaired vibration sensation at ankles, Limb ... |
OMIM:300100 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract, Lower limb spasticity, Hearing impairment, Hand tremor, Progressive spastic paraplegia,... |
ORPHA:401830 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Hip dysplasia, Genu valgum, Abnormalities of the metaphyses of the hand, Abnormal hip joint morph... |
ORPHA:166011 |
| Cataract 41 |
|
Developmental cataract, Nuclear cataract |
OMIM:116400 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Spasticity |
OMIM:617013 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Spasticity |
OMIM:615924 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Mental Retardation, Autosomal Recessive 58 |
|
Choreoathetosis, Spastic diplegia, Short stature, Stereotypy |
OMIM:617270 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Inability to walk, Macrotia, Difficulty walking, Limb ataxia, Poor coordination, Ataxia, Decrease... |
OMIM:617695 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Growth delay, Cataract, Alopecia, Short stature, Sparse body hair, Dry skin |
ORPHA:177 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Fair hair, Short stature, Blue irides |
OMIM:276880 |
| Pili Torti |
|
Abnormal eyebrow morphology, Abnormality of the nail, Hearing impairment, Brittle hair, Alopecia,... |
ORPHA:2889 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Talipes equinovarus, Frequent falls, Spasticity |
OMIM:616719 |
| Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract, Hip dislocation |
OMIM:212540 |
| Smith-Magenis syndrome |
|
Short stature, Stereotypy, Hyperactivity |
DECIPHER:8 |
| Lichen Planopilaris |
|
Pruritus, Onycholysis, Hyperkeratosis, Hepatitis, Pterygium, Alopecia, Hypopigmented skin patches... |
ORPHA:525 |
| Juvenile Sialidosis Type 2 |
|
Loss of ability to walk, Corneal opacity, Ataxia, Generalized hypertrichosis, Cataract, Lower lim... |
ORPHA:93399 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Abnormality of tibia morphology, Bowing of the long bones, Aplasia/Hypoplasi... |
ORPHA:3344 |
| Baker-Gordon Syndrome |
|
Inability to walk, Dystonia, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, C... |
OMIM:618218 |
| Netherton Syndrome |
|
Brittle scalp hair, Allergic rhinitis, Erythroderma, Sparse scalp hair, Sparse and thin eyebrow, ... |
OMIM:256500 |
| Short Syndrome |
|
Sparse hair, Posterior embryotoxon, Corneal opacity, Weight loss, Severe short stature, Hypoplasi... |
ORPHA:3163 |
| Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Cryptorchidism, Decreased body weight, Postnatal growth retardation, Cataract, Hearing impairment... |
OMIM:612947 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy, Hyperactivity |
OMIM:300271 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Stereotypy |
OMIM:606053 |
| Trichothiodystrophy |
|
Cryptorchidism, Hypertonia, Ridged nail, Eczema, Numerous pigmented freckles, Fragile nails, Para... |
ORPHA:33364 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Absent eyelashes, Congenital onychodystrophy, Absent eyebrow, Brittle hair, Alopecia... |
OMIM:602032 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Thyroiditis, Hypothyroidism, Erythroderma, Scaling skin, Failure to thr... |
OMIM:606367 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor |
OMIM:615400 |
| Foxg1 Syndrome |
|
Inability to walk, Dystonia, Difficulty walking, Hyperkinetic movements, Decreased body weight, M... |
ORPHA:561854 |
| Monilethrix |
|
Abnormal eyebrow morphology, Abnormality of the nail, Sparse hair, Abnormal eyelash morphology, S... |
ORPHA:573 |
| Woolly Hair |
|
Hypopigmentation of hair, Slow-growing hair, Cataract, Sparse lateral eyebrow, Brittle hair, Abno... |
ORPHA:170 |
| Ameloonychohypohidrotic Syndrome |
|
Hypohidrosis, Seborrheic dermatitis, Onycholysis, Abnormal hair morphology, Dry skin |
OMIM:104570 |
| Crandall Syndrome |
|
Abnormal testis morphology, Sensorineural hearing impairment, Brittle hair, Alopecia, Aplasia/Hyp... |
ORPHA:202 |
| Exfoliation Syndrome |
|
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... |
OMIM:177650 |
| Biotinidase Deficiency |
|
Skin rash, Seborrheic dermatitis, Lethargy, Ataxia, Conjunctivitis, Sensorineural hearing impairm... |
OMIM:253260 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, ... |
OMIM:606324 |
| Johnson Neuroectodermal Syndrome |
|
Hypohidrosis, Sparse hair, Absent eyelashes, Conductive hearing impairment, Atresia of the extern... |
ORPHA:2316 |
| Monomelic Amyotrophy |
|
Fasciculations, Tremor |
ORPHA:65684 |
| Congenital Varicella Syndrome |
|
Cataract, Micromelia |
ORPHA:291 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Spastic diplegia, Stereotypy |
OMIM:617830 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hyperkeratosis, Sparse ... |
OMIM:613573 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:214450 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Cogwheel rigidity, Spastic paraparesis, Resting tremor, Ankle clonus, Bradykinesia, Babinski sign... |
ORPHA:363654 |
| Hyperprolinemia, Type I |
|
Stereotypy, Hyperactivity, Ataxia, Hyperprolinemia |
OMIM:239500 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Head tremor, Action tremor, Progressive cerebellar ataxia, Parkinsonism, Dysm... |
OMIM:604326 |
| Mucolipidosis Type Iii |
|
Short stature, Hearing abnormality, Corneal opacity, Acne |
ORPHA:577 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... |
OMIM:609441 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Paresthesia, Nail dysplasia, Xerostomia, Cataract, Hypokalemia, Hyperpigmentation o... |
OMIM:175500 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Corneal opacity |
ORPHA:1980 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Low-set, posteriorly rotated ears, Corneal opacity, Short stature |
ORPHA:2370 |
| Mietens Syndrome |
|
Hip dysplasia, Hypoplasia of the radius, Talipes, Corneal opacity, Hypoplasia of the ulna, Catara... |
ORPHA:2557 |
| Acrodermatitis Enteropathica |
|
Pustule, Abnormal eyebrow morphology, Abnormality of the nail, Corneal erosion, Ridged nail, Ridg... |
ORPHA:37 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Severe short stature, Large fleshy ears, Severe postnatal growth retardation, Alopecia |
OMIM:203550 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of melanosomes in mela... |
OMIM:607624 |
| Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Bradykinesia, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Spasticity |
ORPHA:521406 |
| Ulna And Fibula, Hypoplasia Of |
|
Fibular hypoplasia, Hypoplasia of the ulna |
OMIM:191400 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Humeroradial synostosis, Forearm undergrowth, Absent radius, Talipes equinovarus, S... |
OMIM:251230 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Apraxia, Clumsiness, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:612953 |
| Gomez-Lopez-Hernandez Syndrome |
|
Hypertonia, Ataxia, Posteriorly rotated ears, Low-set ears, Opacification of the corneal stroma, ... |
OMIM:601853 |
| Mental Retardation, Autosomal Dominant 7 |
|
Thickened helices, Incoordination, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, ... |
OMIM:614104 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Bradykinesia, Action tremor, Parkinsonism, Babinski sign |
OMIM:300423 |
| Congenital Rubella Syndrome |
|
Skin rash, Abnormality of retinal pigmentation, Spastic diplegia, Corneal opacity, Aplasia/Hypopl... |
ORPHA:290 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Short femur, Rhizomelia, Short humerus, Sandal gap, Short ribs, Talipes... |
OMIM:607143 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Hyperglutami... |
ORPHA:470 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Tremor, Choreoathetosis, Myoclonus |
OMIM:261630 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Dysm... |
OMIM:164500 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Primary adrenal insufficiency, Hypopigmented skin patches, ... |
ORPHA:3453 |
| Sialidosis Type 1 |
|
Tremor, Hyperkeratosis, Slurred speech, Gait disturbance, Corneal opacity, Ataxia, Cataract, Sens... |
ORPHA:812 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment, White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Tyrosinemia Type 2 |
|
Tremor, Abnormality of the nail, Palmoplantar keratoderma, Hyperkeratosis, Corneal opacity, Ataxi... |
ORPHA:28378 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Palmoplantar hyperhidrosis, Sparse hair, Palmoplantar keratoderma, Erythema, Sensorineural hearin... |
ORPHA:659 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Absent tibia, Preaxial foot polydactyly, Mirror image foot polydactyly, Pate... |
OMIM:119800 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... |
ORPHA:1505 |
| Cronkhite-Canada Syndrome |
|
Abnormality of skin pigmentation, Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Genera... |
ORPHA:2930 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Vitiligo, Tympanosclerosis, Decreased circulating aldosterone level, Chronic oral candidiasis, Pr... |
OMIM:240300 |
| Waardenburg Syndrome, Type 4A |
|
White eyebrow, Spastic paraparesis, Premature graying of hair, Heterochromia iridis, Ataxia, Sens... |
OMIM:277580 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Tremor, Speech apraxia, Bradykinesia, Progressive extrapyramidal ... |
ORPHA:454887 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Johnson Neuroectodermal Syndrome |
|
Hypohidrosis, Sparse hair, Absent eyelashes, Conductive hearing impairment, Atresia of the extern... |
OMIM:147770 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Alopecia totalis, Cataract, Lack of skin elasticity, Nail dystrophy |
ORPHA:1366 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Tremor, Gait ataxia, Sparse eyebrow, Dystonia, Sparse eyelashes, Low-set ears,... |
OMIM:617988 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastrointestinal inflammation, Abnormal circulating selenium concentration, Decreased plasma tota... |
ORPHA:79408 |
| Sialidosis Type 2 |
|
Tremor, Corneal opacity, Ataxia, Hearing impairment, Short stature |
ORPHA:87876 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Dystonia, Overweight, Difficulty walking, Waddling gait, Babinski sign, Stereotypy, Short stature... |
ORPHA:280763 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Dystonia, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Falls, Stereotypy |
OMIM:619150 |
| Omenn Syndrome |
|
Hypoproteinemia, Erythroderma, Pneumonia, Hypoplasia of the thymus, Alopecia, Failure to thrive |
OMIM:603554 |
| Baralle-Macken Syndrome |
|
Inability to walk, Dystonia, Hirsutism, Spasticity, Cataract, Cafe-au-lait spot, Striae distensae... |
OMIM:619255 |
| Congenital Sialidosis Type 2 |
|
Developmental cataract, Corneal opacity, Ataxia, Generalized hypertrichosis, Cataract, Hearing im... |
ORPHA:93400 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Chorea, Abnormal pyramidal sign, Parkinsonism, Upper motor neuron dysfunction... |
ORPHA:216873 |
| Laurin-Sandrow Syndrome |
|
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Tal... |
ORPHA:2378 |
| Chilblain Lupus |
|
Skin rash, Hyperkeratosis, Pruritis on hand, Discoid lupus rash, Malar rash, Skin ulcer, Inflamma... |
ORPHA:90280 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Gonadotropin deficiency, Red hair, Growth delay, Decreased response to growth hormone stimuation ... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Gonadotropin deficiency, Red hair, Growth delay, Decreased response to growth hormone stimuation ... |
ORPHA:71526 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hypothyroidism, Erythroderma, Glomerulonephritis, Hepatitis, Failure to thrive, Alopecia, Eczema,... |
OMIM:304790 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Macrotia, Growth delay, Spastic tetraparesis, Cataract, Spasticity |
OMIM:616154 |
| Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Hypoplastic toenails, Ectopia lentis, Fingernail dysplasia, Sparse scalp hair, Hearing impairment... |
ORPHA:2325 |
| Atelosteogenesis Type Iii |
|
Vertebral hypoplasia, Talipes equinovarus, Fibular aplasia, Absent humerus, Club-shaped distal fe... |
ORPHA:56305 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Action tremor, Pes cavus, Upper limb postural tremor, Hammertoe |
OMIM:180800 |
| Monilethrix |
|
Sparse hair, Nail dysplasia, Brittle hair, Alopecia, Abnormality of hair texture, Nail dystrophy,... |
OMIM:158000 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Bronchiectasis, Recurrent sinusitis, Chronic atrophic gastritis, Pyoderma gangrenosum, Alopecia, ... |
OMIM:616576 |
| Fucosidosis |
|
Abnormality of the nail, Generalized hyperkeratosis, Hypothyroidism, Abnormal pyramidal sign, Cor... |
ORPHA:349 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormality of tibia morphology, Synostosis of carpal bones, Hypoplasia of the ulna, Fibular hypo... |
ORPHA:2634 |
| Dermatitis, Atopic |
|
Pruritus, Keratoconus, Allergic rhinitis, Atopic dermatitis, Facial erythema, Conjunctivitis, Cat... |
OMIM:603165 |
| Christianson Syndrome |
|
Dystonia, Gait ataxia, Truncal ataxia, Macrotia, Thick eyebrow, Cachexia, Stereotypy |
ORPHA:85278 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Prolidase Deficiency |
|
Low anterior hairline, Pruritus, Abnormality of retinal pigmentation, Palmoplantar keratoderma, H... |
ORPHA:742 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Cutis laxa, ... |
ORPHA:2269 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Growth delay, Long eyelashes, Synophrys, Intrauterine growth retardation, Low-set ears, H... |
ORPHA:238750 |
| Chanarin-Dorfman Syndrome |
|
Ataxia, Sensorineural hearing impairment, Subcapsular cataract, Alopecia, Microtia |
OMIM:275630 |
| Parkinsonism-Dystonia, Infantile, 1 |
|
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... |
OMIM:613135 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Pain insensitivity, Sparse scalp hair, Corneal scarring, Nail dysplasia, Keratitis, Opacification... |
OMIM:256800 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... |
ORPHA:79230 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Short stature, Pallor, Hypopigmentation of the skin |
ORPHA:2786 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Palmoplantar hyperhidrosis, Palmoplantar keratoderma, Angular cheil... |
ORPHA:2309 |
| Spastic Paraplegia 5A, Autosomal Recessive |
|
Spastic paraplegia, Limb dysmetria, Cataract, Spastic gait, Sensorineural hearing impairment, Low... |
OMIM:270800 |
| Dermatoosteolysis, Kirghizian Type |
|
Nail dysplasia, Keratitis, Skin ulcer, Nail dystrophy |
OMIM:221810 |
| Ataxia-Telangiectasia |
|
Tremor, Hypopigmentation of hair, Premature graying of hair, Abnormal testis morphology, Gait dis... |
ORPHA:100 |
| Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Erythema |
ORPHA:222 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Nail pits, Ridged nail, Alopecia, Nail dystrophy |
OMIM:601705 |
| Alopecia-Mental Retardation Syndrome 4 |
|
Erythroderma, Bilateral cryptorchidism, Alopecia |
OMIM:618840 |
| Pachydermoperiostosis |
|
Seborrheic dermatitis, Osteomyelitis, Elevated circulating growth hormone concentration, Abnormal... |
ORPHA:2796 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Iris coloboma, Severe sensorineural hearing impairment, Micro... |
OMIM:601706 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Hypopigmentation of hair, Ataxia, Hyperactivity, Hypopigmentation of the s... |
ORPHA:411515 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Radio-Tartaglia Syndrome |
|
Hirsutism, Striae distensae, Obesity, Low anterior hairline, Ataxia, Synophrys, Low-set ears, Thi... |
OMIM:619312 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Morphological abnormality of the middle ear, Synophrys, Abnormality of the ... |
OMIM:182290 |
