| Syndactyly Type 4 |
|
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... |
ORPHA:93405 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Optic Atrophy 2 |
|
Babinski sign, Absent Achilles reflex, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... |
OMIM:200700 |
| Erythrokeratodermia Variabilis |
|
Cataract, Alopecia, Irregular hyperpigmentation, Erythema, Hearing impairment, Abnormal hair morp... |
ORPHA:317 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Hearing impairment, Failure to thrive, Palmoplantar keratoderma, Hypohidrosi... |
ORPHA:79394 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Pes cavus, Palmoplantar hyperkeratosis, Tremor |
OMIM:309560 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... |
OMIM:249700 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perioral erythema, Decreased testicular size, Dry skin, Alopecia of scalp, Tre... |
OMIM:201100 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Vesicoureteral reflux,... |
OMIM:619217 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... |
OMIM:605274 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... |
OMIM:127300 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Pruritus, Perifollicular hy... |
ORPHA:505 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... |
ORPHA:1972 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Hidrotic Ectodermal Dysplasia |
|
Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha... |
ORPHA:189 |
| Fibular Hemimelia |
|
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... |
ORPHA:93323 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Keratoconus, Alopecia, Palmoplantar keratoderma, Failure to thrive, Increased se... |
OMIM:242150 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczematoid dermatitis, Decreased serum zinc |
OMIM:608118 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Gómez-López-Hernández Syndrome |
|
Low-set ears, Toenail dysplasia, Impaired pain sensation, Alopecia of scalp, Corneal opacity, Ata... |
ORPHA:1532 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Sparse eyelashes, Abse... |
OMIM:602540 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... |
ORPHA:2722 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair, Increased LDL cholesterol concentration, Gait ataxia, Aggressive behavior, Development... |
OMIM:618808 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Pes cavus, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism, Spastic paraparesis, Tremor |
OMIM:312910 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia |
OMIM:613571 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Neonatal hyperbilirubinemia, Pigmentary retinopathy, Decreased response to growth hormo... |
ORPHA:3363 |
| Kerion Celsi |
|
Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab... |
ORPHA:499 |
| Oliver-Mcfarlane Syndrome |
|
Severe short stature, Alopecia, Pigmentary retinopathy, Central heterochromia, Decreased response... |
OMIM:275400 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Elevated circulating creatine k... |
OMIM:615704 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| L-Ferritin Deficiency |
|
Alopecia, Restless legs, Decreased circulating ferritin concentration |
OMIM:615604 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Slc39A8-Cdg |
|
Low-set ears, Disproportionate short-limb short stature, Hearing impairment, Failure to thrive in... |
ORPHA:468699 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Flynn-Aird Syndrome |
|
Cataract, Alopecia, Progressive sensorineural hearing impairment, Alopecia of scalp, Ataxia, Hype... |
OMIM:136300 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Periodontitis, Hearing impairment, Sparse body hair, Melanocytic nevus, Abn... |
ORPHA:1008 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Perifolliculitis, Alopecia, Alopecia of scalp |
OMIM:260910 |
| Bathing Suit Ichthyosis |
|
Alopecia, Impaired temperature sensation, Nail dystrophy, Parakeratosis, Hypohidrosis, Palmoplant... |
ORPHA:100976 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Absent patellar reflexes, Decreased patellar reflex, Tremor, Abnormal foot morphology |
OMIM:614369 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Hearing impairment, Fine hair, Skin ulcer, Abnormal fingernail morphology,... |
ORPHA:1806 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Spinal Muscular Atrophy, Jokela Type |
|
Fasciculations, Pes cavus, Tremor, Pes planus, Calf muscle hypertrophy, Hammertoe |
OMIM:615048 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Dry skin, Erythroderma, Brittle hair, Sparse hair, Hyperkeratosis, Macrotia, Cataract... |
OMIM:601675 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, Hearing impairment, White eyebrow, Abnormal anterior chamber morpho... |
ORPHA:42665 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls |
OMIM:619647 |
| Moynahan Syndrome |
|
Alopecia, Sensorineural hearing impairment, Cachexia, Short stature, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Dry skin, Nail dystrophy, Nail dysplasia, Facial erythema, Palmoplantar hyperke... |
OMIM:212360 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair... |
ORPHA:2890 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Postural tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Ataxia, Progressive cerebellar ataxia, Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Low-set ears, Cataract, Sparse eyebrow, Coarse hair, Microcornea, Sparse eyelashes, Sensorineural... |
ORPHA:35173 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Pes cavus, Cogwheel rigidity, Gait a... |
OMIM:128230 |
| Lamellar Ichthyosis |
|
Abnormal helix morphology, Dry skin, Lack of skin elasticity, Erythroderma, Aplasia/Hypoplasia of... |
ORPHA:313 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Ichthyosis With Confetti |
|
Hypertrichosis, Decreased body weight, Hypoplastic nipples, Palmoplantar hyperkeratosis, Erythrod... |
OMIM:609165 |
| Spastic Paraparesis-Deafness Syndrome |
|
Cataract, Impaired pain sensation, Sensorineural hearing impairment, Gait disturbance, Ataxia, Sh... |
ORPHA:2815 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Severe short stature, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar ker... |
ORPHA:2251 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Blepharitis, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pil... |
OMIM:602400 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Classic Mycosis Fungoides |
|
Erythema, Alopecia, Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patche... |
ORPHA:2584 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Clouston Syndrome |
|
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... |
OMIM:129500 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... |
ORPHA:79397 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation... |
OMIM:617093 |
| Thumb Deformity And Alopecia |
|
Short stature, Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Peeling Skin Syndrome 1 |
|
Nail dystrophy, Onycholysis, Erythroderma, Palmoplantar hyperhidrosis, Scaling skin, Brittle hair... |
OMIM:270300 |
| N-Acetylaspartate Deficiency |
|
Broad-based gait, Self-mutilation, Decreased body weight, Short stature, Truncal ataxia, Unsteady... |
OMIM:614063 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Pes cavus, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal py... |
OMIM:607317 |
| Flynn-Aird Syndrome |
|
Cataract, Alopecia, Progressive sensorineural hearing impairment, Impaired pain sensation, Skin u... |
ORPHA:2047 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Winchester Syndrome |
|
Corneal opacity, Hirsutism |
OMIM:277950 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hirsutism, Hyperactivity, Short stature, Small for gestational age |
ORPHA:85288 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Toenail dysplasia, Ectopia lentis, Hearing impairment, Abnormal fingernail morphology, ... |
ORPHA:2325 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Severe short stature, Alopecia totalis, Hyperpigmentation of the skin, Abnormality of the nail |
OMIM:302000 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Ichthyosis With Erythrokeratoderma |
|
Erythema, Palmoplantar keratoderma, Leukonychia, Diffuse palmoplantar hyperkeratosis, Parakeratos... |
OMIM:620507 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A... |
ORPHA:971 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Recurrent pneumonia, Failure to thrive, Hepatitis, Hypopigmented skin patches, Skin ulc... |
ORPHA:47 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Dry skin, Abnormal... |
ORPHA:248 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Nail dystrophy, Juvenile cataract, Absent eyelashes, Hypothyroidism, Abse... |
OMIM:618625 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... |
ORPHA:206484 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Esophagitis, Sensorineural hearing impairment, Decreased serum z... |
ORPHA:541423 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Spotty hyperpigmentation, Crusting e... |
ORPHA:79147 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Alopecia, Sparse eyebrow, Keratitis, Palmoplantar keratoderma, Folliculitis, Nail dystr... |
OMIM:612843 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Hand tremor, Gait ataxia, Recurrent hand flapping, Dysphagia, Short stature, Mo... |
OMIM:617862 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Chromosome 3Q29 Deletion Syndrome |
|
Low-set ears, Failure to thrive, Gait ataxia, Motor stereotypy, Aggressive behavior, Hyperactivit... |
OMIM:609425 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormality of the uterus, Abnormality of the ovary, Abnormal hip ... |
ORPHA:3130 |
| Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Enlarged k... |
OMIM:613885 |
| Phenylketonuria |
|
Cataract, Fair hair, Eczematoid dermatitis, Dry skin, Self-mutilation, Maternal hyperphenylalanin... |
OMIM:261600 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Alopecia, Pruritus, Nail dystrophy |
OMIM:616487 |
| Quinquaud Folliculitis Decalvans |
|
Erythema, Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurre... |
ORPHA:346 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Leg muscle stiffness, Limb ataxia, Pes cavus, Tremor, Babinski sign, Spastic ... |
ORPHA:251282 |
| Netherton Syndrome |
|
Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp... |
ORPHA:634 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Cataract, Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidis... |
ORPHA:1867 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Galactosialidosis |
|
Hearing impairment, Corneal opacity |
ORPHA:351 |
| Sézary Syndrome |
|
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Nail dystrophy, Tremor... |
ORPHA:3162 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Severe short stature, Alopecia, Rhizomelia, Elevated circulating phytanic acid concentration, Sen... |
OMIM:215100 |
| Classic Phenylketonuria |
|
Self-injurious behavior, Cataract, Hypopigmentation of the skin, Eczematoid dermatitis, Tremor, L... |
ORPHA:79254 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... |
ORPHA:1882 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Psoriasiform dermat... |
OMIM:615508 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczematoid dermatitis, Anorexia, Hyperammonemia, Keratoconjunctivitis,... |
ORPHA:79242 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... |
OMIM:201170 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Inflexible adherence to routines, Truncal ataxia, Unsteady gait, Motor ster... |
OMIM:608636 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Keratoderma Hereditarium Mutilans |
|
Self-injurious behavior, Alopecia, Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Sen... |
ORPHA:494 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Dry skin, Trichody... |
ORPHA:3361 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash |
OMIM:601979 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, Eczematoid derma... |
ORPHA:2897 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Netherton Syndrome |
|
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Eczematoid dermatitis, ... |
OMIM:256500 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Skin ulcer, Conjunctival hamartoma, Weight loss, Erythroderma, Hyperker... |
ORPHA:312 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyebrow, Rhizomelia, Hearing impairment, Failure to thrive, Postnatal growth ret... |
OMIM:302960 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Pes cavus, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Acrodermatitis Enteropathica |
|
Erythema, Alopecia, Ridged fingernail, Blepharitis, Failure to thrive, Skin ulcer, Abnormal eyebr... |
ORPHA:37 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Large for gestational age, Corneal opacity |
ORPHA:2432 |
| Omenn Syndrome |
|
Pneumonia, Alopecia, Failure to thrive, Dry skin, Hypothyroidism, Erythroderma, Aplasia/Hypoplasi... |
ORPHA:39041 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderm... |
OMIM:242300 |
| Incontinentia Pigmenti |
|
Erythema, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Abnormal to... |
ORPHA:464 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Paronychia, Failure to thrive, Perioral erythema, Pustule, Erythroderma, Bleph... |
OMIM:614328 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Abnormality of the Achilles tendon, Hypore... |
ORPHA:98763 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Alopecia, Xerostomia, Hypomagnesemia, Paresthesia, Nail dystrophy, Hypocalcemia, Hypoka... |
OMIM:175500 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Failure to thrive, Decreased body weight, Absent eyelashes, Absent eyeb... |
ORPHA:2985 |
| Spinocerebellar Ataxia 18 |
|
Pes cavus, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Self-injurious behavior, Aggressive behavior, Short stature, Pica, Motor stereotypy, Choreoathetosis |
OMIM:617270 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
| Copper Deficiency, Familial Benign |
|
Failure to thrive, Seborrheic dermatitis, Curly hair, Decreased circulating copper concentration,... |
OMIM:121270 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... |
OMIM:618282 |
| Smith-Magenis syndrome |
|
Short stature, Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
| Renpenning Syndrome |
|
Severe short stature, Cataract, Alopecia, Abnormal hairshaft morphology, Growth delay, Thin eyebr... |
ORPHA:3242 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Hearing impairment, Sparse body hair, Macrotia, Aplasia/Hypoplasia of the eyebrow, Shor... |
ORPHA:2850 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Hearing impairment, Failure to thrive |
ORPHA:337 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Short stature, Motor stereotypy, Hyperactivity |
OMIM:300271 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Alopecia of scalp, Hyperpigmentation of the skin, Follicular hyperkeratosis, E... |
OMIM:608649 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma, Agitation, Bilateral cryptorchidism |
OMIM:618840 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Small nail, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy |
OMIM:619470 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Ambiguous genitalia, Male pseudohermaphroditism, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
| Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, Congenital sensorineural hea... |
OMIM:619947 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Chromosome 2Q37 Deletion Syndrome |
|
Pain insensitivity, Highly arched eyebrow, Self-injurious behavior, Eczematoid dermatitis, Obesit... |
OMIM:600430 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Falls, Bruxism, Chorea, Inappropriate laughter, Aggressive behavior, Ataxia, Dystonia, Motor ster... |
OMIM:619150 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Micrognathia, Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation... |
ORPHA:71526 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia |
OMIM:618709 |
| Fraxe Intellectual Disability |
|
Prominent ear helix, Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand ... |
ORPHA:100973 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Palmoplantar ery... |
OMIM:104100 |
| Autism, Susceptibility To, X-Linked 3 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:300425 |
| Foxp1 Syndrome |
|
Hypoplastic helices, Decreased circulating iron concentration, Failure to thrive, Recurrent otiti... |
ORPHA:391372 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:608631 |
| Lichen Planopilaris |
|
Alopecia, Hepatitis, Hypopigmented skin patches, Skin ulcer, Abnormal fingernail morphology, Pter... |
ORPHA:525 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Inappropriate lau... |
ORPHA:411515 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidi... |
ORPHA:240103 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Low-set ears, Highly arched eyebrow, Eczematoid dermatitis, Cryptorchidism, Attention deficit hyp... |
ORPHA:352490 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Broad foot, T... |
OMIM:609441 |
| Cronkhite-Canada Syndrome |
|
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Anorexi... |
ORPHA:2930 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Hearing impairment, Skin ulcer, Penetrating foot ulcers, Inability to walk, T... |
ORPHA:36386 |
| Autism |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:209850 |
| Autism, Susceptibility To, 8 |
|
Restrictive behavior, Motor stereotypy, Inflexible adherence to routines |
OMIM:607373 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Sensorineur... |
ORPHA:2885 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Small hand, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Short foot,... |
OMIM:610185 |
| Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
| Hyperprolinemia, Type I |
|
Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy |
OMIM:239500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Rhizomelic Chondrodysplasia Punctata |
|
Cataract, Alopecia, Rhizomelia, Sparse body hair, Dry skin, Short stature, Growth delay |
ORPHA:177 |
| Gomez-Lopez-Hernandez Syndrome |
|
Low-set ears, Self-injurious behavior, Alopecia, Decreased response to growth hormone stimulation... |
OMIM:601853 |
| Pili Torti |
|
Alopecia, Hearing impairment, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality ... |
ORPHA:2889 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Small for gestational age, Failure to thrive in infancy, Inappropriate laughter, Intrauterine gro... |
OMIM:614104 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... |
ORPHA:79106 |
| Monilethrix |
|
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slo... |
ORPHA:573 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Pain insensitivity, Keratitis, Osteomyelitis, Corneal scarring, Nail dystrophy, Self-mutilation, ... |
OMIM:256800 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Hurler-Scheie Syndrome |
|
Sensorineural hearing impairment, Generalized hirsutism, Corneal opacity, Short stature, Rhinitis |
ORPHA:93476 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hearing impairment, Hand tremor, Difficulty walking, Delayed menarche, Head tremor, Pos... |
ORPHA:412057 |
| Foxg1 Syndrome |
|
Difficulty walking, Inability to walk, Bruxism, Decreased body weight, Stereotypical hand wringin... |
ORPHA:561854 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Hypospadias, Adrenal... |
OMIM:201910 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Sensorineural hearing impairment, Pili torti... |
ORPHA:202 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Eczematoid dermatitis, Failure to thrive in infancy, Psoriasiform dermatiti... |
OMIM:606367 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Motor stereotypy |
OMIM:606053 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... |
OMIM:617284 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Difficulty walking, Cataract, Motor stereotypy, Failure to thrive |
OMIM:617393 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
| Cortisone Reductase Deficiency 1 |
|
Acne, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
| Slc35A2-Cdg |
|
Precocious puberty, Aplasia/hypoplasia involving bones of the extremities, Hip subluxation, Short... |
ORPHA:356961 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Rhizomelia, Short tibia, Sandal gap, Cryptorchidism, Short humerus, Short ribs, Ta... |
OMIM:607143 |
| Mucolipidosis Type Iii |
|
Acne, Hearing abnormality, Short stature, Corneal opacity |
ORPHA:577 |
| Short Syndrome |
|
Severe short stature, Alopecia, Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, ... |
ORPHA:3163 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Pes cavus, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
Low-set ears, High anterior hairline, Thin eyebrow, Recurrent hand flapping, Posteriorly rotated ... |
OMIM:618147 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Aggressive behavior, Hyperactivity, Short stature, Anteverted ears, Motor stereotypy, Macrotia, S... |
OMIM:615541 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Self-injurious behavior, Broad-based gait, Difficulty walking, Inability to walk, Limb ataxia, De... |
OMIM:617695 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Severe short stature, Severe postnatal growth retardation, Alopecia, Large fleshy ears |
OMIM:203550 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, Growth delay, Nail dystrophy, Anonychia, Glomerulone... |
ORPHA:79408 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Corneal opacity |
ORPHA:1980 |
| Smith-Magenis Syndrome |
|
Pain insensitivity, Abnormality of the outer ear, Head-banging, Hearing impairment, Impaired pain... |
OMIM:182290 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration, Impaired distal proprioception, Hypoesthesia, Short stature, Impaired distal vi... |
OMIM:614213 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Failure to thrive, Onychogrypos... |
ORPHA:2309 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
| Nicolaides-Baraitser Syndrome |
|
Severe short stature, Highly arched eyebrow, Alopecia, Eczematoid dermatitis, Long eyelashes, Cur... |
ORPHA:3051 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... |
OMIM:201810 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Tremor, A... |
ORPHA:33445 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Intrauterine growth retardation, Short stature, Corneal opacity |
ORPHA:2370 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius, Proximal placem... |
OMIM:314390 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... |
ORPHA:1988 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Absent internal auditory canal, Highly arched eyebrow, Self-injurious behavior, Profound sensorin... |
OMIM:620469 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Difficulty walking, Bruxism, Inappropriate laughter, Stereotypical hand ... |
ORPHA:505652 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Alopecia, Increased circulating cortisol level, Chronic mucocutaneous candidiasis, Hypo... |
ORPHA:3453 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Increased circulating ferritin concentration, Decreased response to growth hor... |
ORPHA:470 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Low-set ears, Highly arched eyebrow, Bruxism, Tremor, Decreased body weight, Protruding ear, Sens... |
OMIM:618342 |
| Johnson Neuroectodermal Syndrome |
|
Severe short stature, Alopecia, Conductive hearing impairment, Atresia of the external auditory c... |
ORPHA:2316 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder, Motor stereotypy |
OMIM:617787 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Lack of skin elasticity |
ORPHA:1366 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... |
ORPHA:1106 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Prolidase Deficiency |
|
Erythema, Palmoplantar keratoderma, Hearing impairment, Skin ulcer, Abnormal fingernail morpholog... |
ORPHA:742 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Dry skin, Parakeratosis, Hypohidrosis, Erythroderma, Sc... |
OMIM:612281 |
| 2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Growth delay, Cryptorchidism, Generalized hirsuti... |
ORPHA:228402 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Dry skin, Alopecia of sc... |
ORPHA:2269 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Incontinentia Pigmenti |
|
Erythema, Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Cataract, Alopecia, ... |
OMIM:308300 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Alopecia, Palmoplantar keratoderma, Skin ulcer, Abnormal fingernail morphology, Sensori... |
ORPHA:659 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Dystonia, Motor stereotypy, Self-injurious behavior |
OMIM:617820 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... |
OMIM:213600 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Myelitis, Chorea, Malar rash, Optic neuritis |
OMIM:301080 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Decreased circulating iron concentration, Failure to thrive, Trichorrhexis nodosa, I... |
OMIM:614602 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Dry skin, Failure to thrive, Congenital exfoliative erythroderma |
ORPHA:1954 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... |
OMIM:617145 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Small nail, Hearing impairment, Dry skin, Ataxia, Long eyebrows, Dysphagia, Motor s... |
OMIM:619312 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Spinocerebellar Ataxia 34 |
|
Limb ataxia, Gait ataxia, Intention tremor, Erythroderma, Ataxia, Dysdiadochokinesis, Epidermal h... |
OMIM:133190 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Failure to thrive, Eczematoid dermatitis, Hepatitis, Hypothyroidism, Erythroderma, Glom... |
OMIM:304790 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Clinodactyly, Abnormal fema... |
ORPHA:95699 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Decreased body weight, Short stature, Posteriorly rotated ears, Small for gestational a... |
OMIM:618392 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Severe sensorineural hearing impairment, White forelock, Numerous pigmented freckles... |
OMIM:601706 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Alopecia, Palmoplantar keratoderma, Small nail, Growth delay, Abnormal hair morphology,... |
OMIM:242100 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Skin ulcer, Malar rash, Skin rash, Prur... |
ORPHA:90280 |
| Juvenile Sialidosis Type 2 |
|
Low-set ears, Cataract, Ataxia, Hearing impairment, Dysmetria, Loss of ambulation, Corneal opacit... |
ORPHA:93399 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Microphallus, Hyperechogenic kidneys, Micrognathia,... |
OMIM:612651 |
| Christianson Syndrome |
|
Inappropriate laughter, Thick eyebrow, Gait ataxia, Cachexia, Dysphagia, Truncal ataxia, Dystonia... |
ORPHA:85278 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... |
OMIM:158000 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Short stature, Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Adrenoleukodystrophy |
|
Alopecia, Hearing impairment, Primary adrenal insufficiency, Limb ataxia, Truncal ataxia, Attenti... |
OMIM:300100 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Cryptorchidism, Attention deficit hyperactivity disorder, Hypohidrosis, Opacification o... |
ORPHA:461 |
| Biotinidase Deficiency |
|
Alopecia, Hyperammonemia, Skin rash, Sensorineural hearing impairment, Seborrheic dermatitis, Ata... |
OMIM:253260 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Hearing impairment, Dry skin, Cryptorchidism, Neonatal death, Absent eyelashes, Absent eyebrow, F... |
OMIM:308205 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Alopecia universalis, Alopecia, Cataract, Cholelithiasis, Chronic mucocutaneo... |
OMIM:240300 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Pallor, Albinism, Hypopigmentation of hair, Short stature |
ORPHA:2786 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
| Transketolase Deficiency |
|
Self-injurious behavior, Cataract, Elevated circulating ribitol concentration, Hearing impairment... |
ORPHA:488618 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Intrauterine growth retardation, Recurrent hand flapping, Agitation, ... |
OMIM:309548 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Dry skin, Erythroderma, Scaling skin, Ataxia, Hyperkeratosis |
OMIM:609180 |
| Trichothiodystrophy |
|
Dry skin, Cryptorchidism, Brittle hair, Split nail, Bilateral sensorineural hearing impairment, M... |
ORPHA:33364 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Hypohidrosis, Attention deficit hyperactivity disorder, Corn... |
ORPHA:281090 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Failure to thrive,... |
ORPHA:238468 |
| Harlequin Ichthyosis |
|
Self-injurious behavior, Cataract, Hearing abnormality, Erythroderma, Hyperkeratosis |
ORPHA:457 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Cataract, Failure to thrive, Eczematoid dermatitis, Hypertrichosis, Dry skin, Cutis... |
OMIM:612379 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Dry skin, Sparse eyelashes, Hy... |
OMIM:618535 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary |
ORPHA:1875 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Hearing impairment, Chronic muco... |
OMIM:158310 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Polyphagia, Short stature, Hypopigm... |
ORPHA:177910 |
| Sialidosis Type 2 |
|
Hearing impairment, Tremor, Corneal opacity, Ataxia, Short stature |
ORPHA:87876 |
| Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Motor stereotypy |
OMIM:617830 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Bruxism, Hyperactivity, Hirsutism |
OMIM:300434 |
| Baralle-Macken Syndrome |
|
Cataract, Inability to walk, Striae distensae, Obesity, Hirsutism, Dystonia, Cafe-au-lait spot |
OMIM:619255 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Short stature, Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Keratoconus, Atopic dermatitis, Cataract, Eczematoid dermatitis, Pruritus, Dry... |
OMIM:603165 |
| Chilblain Lupus 1 |
|
Chilblains, Skin ulcer, Abnormality of the nail |
OMIM:610448 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Micrognathia, Missing ribs, Talipes equi... |
OMIM:608022 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Sensorineural hearing impairment, Subcapsular cataract, Ataxia, Microtia |
OMIM:275630 |
| Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Thin eyebrow, Motor stereotypy, Low anterior hairline |
OMIM:619690 |
| Hypomelanosis Of Ito |
|
Cataract, Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches |
OMIM:300337 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Failure to thrive, Skin ulcer, Otitis media, Skin rash, Arthritis, Sinusitis, Inflamma... |
ORPHA:229717 |
| Hereditary Mucoepithelial Dysplasia |
|
Cataract, Alopecia, Fine hair, Sparse hair, Hyperkeratosis, Corneal dystrophy |
ORPHA:1839 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Femoral bowing, Talipes equinovarus, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Waardenburg Syndrome Type 2 |
|
Hearing impairment, Hypopigmented skin patches, Premature graying of hair, White forelock, Sensor... |
ORPHA:895 |
| Cystinosis |
|
Polydipsia, Failure to thrive, Hypokalemia, Hypophosphatemia, Hypothyroidism, Gait disturbance, D... |
ORPHA:213 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, Motor stereotypy, Agitation |
OMIM:617171 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Alopecia, Abnormal helix morphology, Moderate postnatal growth retardation,... |
ORPHA:1005 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia |
OMIM:128235 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Reticulocytosis, Tremor, Ataxia, Dystonia, Hemolytic anemia, Choreoathetosis |
OMIM:612126 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Poly... |
ORPHA:2229 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent pneumonia, Recurrent sinusitis, Pyoderma gangrenosum, Rec... |
OMIM:616576 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... |
OMIM:618131 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Cheilitis, Obesity, Hypocalcemia, Palmoplantar pustulosis, Hyponatremia, Pustule... |
ORPHA:247353 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... |
OMIM:251230 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Familial Hyperaldosteronism Type Ii |
|
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... |
ORPHA:404 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Male hypogonadism, Spastic tetraplegia, Small hand, Resting tremor, Bradykine... |
OMIM:300055 |
| Bresek Syndrome |
|
Low-set ears, Alopecia, Growth delay, Hearing impairment, Decreased testicular size, Intrauterine... |
ORPHA:85284 |
| Cri-Du-Chat Syndrome |
|
Low-set ears, Cataract, Small for gestational age, Growth delay, Hearing impairment, Premature gr... |
OMIM:123450 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Enla... |
ORPHA:79414 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Gait imbalance, A... |
ORPHA:411511 |
| Congenital Rubella Syndrome |
|
Cataract, Intrauterine growth retardation, Skin rash, Aplasia/Hypoplasia of the iris, Sensorineur... |
ORPHA:290 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... |
OMIM:607624 |
| Familial Hyperaldosteronism Type I |
|
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... |
ORPHA:403 |
| Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati... |
ORPHA:330064 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Palmoplantar keratoderma, Small nail, Decreased number of sweat glan... |
OMIM:129400 |
| Waardenburg Syndrome, Type 4A |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Sensorineural hearing impa... |
OMIM:277580 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer, Sparse scalp hair |
ORPHA:492 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Low-set ears, Bilateral cryptorchidism, Asymmetry of the ears, Astigmatism, Cryptorchidism, Low a... |
OMIM:617796 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Growth delay, Hypocalcemia |
ORPHA:100025 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Calf muscle hypertrophy, Tremor, Fasciculations |
OMIM:313200 |
| 4Q21 Microdeletion Syndrome |
|
Low-set ears, Self-injurious behavior, Growth delay, Hearing impairment, Long eyelashes, Intraute... |
ORPHA:238750 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Knee dislocation, Short tubular bones of the hand, F... |
ORPHA:56305 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
| Tyrosinemia Type 2 |
|
Ataxia, Palmoplantar keratoderma, Tremor, Hyperhidrosis, Corneal opacity, Hyperkeratosis, Abnorma... |
ORPHA:28378 |
| Developmental And Epileptic Encephalopathy 64 |
|
Self-injurious behavior, Highly arched eyebrow, Sparse eyebrow, Inability to walk, Bruxism, Long ... |
OMIM:618004 |
| Gm1 Gangliosidosis |
|
Low-set ears, Ataxia, Failure to thrive, Generalized dystonia, Aspiration pneumonia, Tremor, Hirs... |
ORPHA:354 |
| Kid Syndrome |
|
Trichilemmoma, Prelingual sensorineural hearing impairment, Posterior blepharitis, Postnatal grow... |
ORPHA:477 |
| Reticular Dysgenesis |
|
Hearing impairment, Failure to thrive, Skin ulcer, Skin rash, Weight loss, Chronic otitis media |
ORPHA:33355 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, H... |
ORPHA:3320 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Hypopigmentation of the skin, Cutaneous abscess, Hypert... |
ORPHA:101330 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Low-set ears, Self-injurious behavior, Inability to walk, Bruxism, Tremor, Paroxysmal bursts of l... |
OMIM:618718 |
| Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Abnormal foot morphology, Renal insufficiency, Enlarged kidney, Knee flexion contrac... |
OMIM:608836 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Sensorineural hearing impairment, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Hemiatrophy, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail d... |
ORPHA:79395 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Renal hypoplasia, Short tibia, Preaxial polydactyly, Hypoplastic p... |
OMIM:616300 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... |
ORPHA:199310 |
| Porphyria Cutanea Tarda |
|
Hyperpigmentation in sun-exposed areas, Alopecia, Onycholysis, Facial hypertrichosis |
OMIM:176100 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Progressive hearing impairment, Decreased testicular size, Post... |
ORPHA:453533 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hearing impairment, Bruxism, Long eyelashes, Thick eyebrow, Hyperlipidemia, Obesity,... |
ORPHA:289522 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Cryptorchidism |
OMIM:218550 |
| Familial Benign Copper Deficiency |
|
Acne, Decreased circulating copper concentration, Early balding, Short stature |
ORPHA:1551 |
| Morquio Syndrome C |
|
Severe short stature, Corneal opacity |
OMIM:252300 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:129 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Small nail, Hearing impairment, Large earlobe, Intrauterine growth retardation, Ast... |
OMIM:301056 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Slender long bone, Congenital adrenal hyperplasia, Increased serum testoste... |
ORPHA:96181 |
| Sialidosis Type 1 |
|
Cataract, Tremor, Sensorineural hearing impairment, Gait disturbance, Corneal opacity, Ataxia, Sh... |
ORPHA:812 |
| Ataxia-Telangiectasia |
|
