Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Optic Atrophy 2 |
|
Absent Achilles reflex, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Weight loss, Short stature, Abnormal testis morphology, Sk... |
ORPHA:317 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Alopecia, Hypohidrosis, Corneal erosion, Short stature, Abnormality of the nail, Failure to thriv... |
ORPHA:79394 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp... |
OMIM:112910 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Pes cavus, Tremor, Palmoplantar hyperkeratosis, Spastic paraplegia |
OMIM:309560 |
Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Short stature, Decreased testicular size, Perioral erythema, Ataxia, Failure t... |
OMIM:201100 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing |
OMIM:246570 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Renal dyspl... |
ORPHA:93323 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... |
OMIM:619217 |
Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse scalp hair, Sparse axillary hair, Sparse pubic hair, Pruritus, Perifollicular hy... |
ORPHA:505 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... |
OMIM:200500 |
Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Hidrotic Ectodermal Dysplasia |
|
Brittle scalp hair, Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Generaliz... |
ORPHA:189 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Short thumb, Cataract |
OMIM:274205 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ... |
OMIM:127300 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Short stature, Decreased circulating ... |
OMIM:242150 |
Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema, Decreased serum zinc |
OMIM:608118 |
Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Cataract, Renal insufficiency, Brachydactyly |
OMIM:615995 |
Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse body hair, Alopecia, Hypoplastic toenails, Sparse eyebrow, Abnormal fingernail morphology,... |
ORPHA:2722 |
Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Short stature, Ataxia, Impaired pain sensation, Alopecia of scalp, Corneal opa... |
ORPHA:1532 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... |
ORPHA:240 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Sparse scalp hair, Sensorineural hearing impairment, Absent eyelashes, Cobbleston... |
OMIM:602540 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor, Hypogonadism |
OMIM:312910 |
Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis |
OMIM:127350 |
Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Pes cavus, Tremor |
OMIM:617018 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract, Hepatomegaly |
ORPHA:79281 |
Kerion Celsi |
|
Recurrent skin infections, Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormal... |
ORPHA:499 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Ataxia, Hemipl... |
OMIM:614561 |
Oliver-Mcfarlane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Central heterochromia, Small for... |
OMIM:275400 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Pes cavus, Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h... |
OMIM:605274 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Sparse eyebrow, Alopecia, Hypohidrosis, Erysipelas, Elevated circulating creatine kinase concentr... |
OMIM:615704 |
Slc39A8-Cdg |
|
Inability to walk, Short stature, Hypomanganesemia, Astigmatism, Disproportionate short-limb shor... |
ORPHA:468699 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi... |
OMIM:601376 |
Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Irregular hyperpigmentation, Decreased body weight, Corneal erosion, Absent toenail, Decreased pl... |
ORPHA:89842 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Talipes equinovarus, Parkin... |
OMIM:260300 |
Bathing Suit Ichthyosis |
|
Alopecia, Hypohidrosis, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Scaling skin, Par... |
ORPHA:100976 |
Flynn-Aird Syndrome |
|
Alopecia, Progressive sensorineural hearing impairment, Ataxia, Alopecia of scalp, Cataract, Hype... |
OMIM:136300 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse body hair, Sparse scalp hair, Melanocytic nevus, Periodontitis, Alopecia universalis, Abno... |
ORPHA:1008 |
Hypotrichosis Simplex |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse hair |
ORPHA:55654 |
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp, Perifolliculitis |
OMIM:260910 |
Alopecia Areata 1 |
|
Trachyonychia, Alopecia universalis, Alopecia totalis, Nail pits, Patchy alopecia |
OMIM:104000 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hypohidrosis, Abnormality of skin pigmentation, Short stature, Corneal dystrophy, Keratoconjuncti... |
ORPHA:1806 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Abnormal foot morphology, Tremor, Absent patellar reflexes, Decreased patellar reflex |
OMIM:614369 |
Hypotrichosis 4 |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Uncombable hair, Sparse eyelashes |
OMIM:146550 |
Alopecia Universalis Congenita |
|
Absent eyelashes, Alopecia universalis, Absent pubic hair, Absent eyebrow, Absent axillary hair |
OMIM:203655 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... |
ORPHA:42665 |
Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Pes cavus, Tremor, Hammertoe, Pes planus, Fasciculations |
OMIM:615048 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair, Increased LDL cholesterol concentration, Developmental cataract, Gait ataxia |
OMIM:618808 |
Alopecia Areata 2 |
|
Alopecia of scalp, Alopecia universalis, Patchy alopecia, Alopecia totalis |
OMIM:610753 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Sparse body hair, Alopecia, Dystrophic toenail, Hypopigmentation of the skin, Alopecia of scalp, ... |
OMIM:617294 |
Trichothiodystrophy 1, Photosensitive |
|
Tiger tail banding, Keratoconjunctivitis sicca, Freckling, Erythroderma, Sparse hair, Small nail,... |
OMIM:601675 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Ambiguous genitalia, Coxa valga, Hip dislocation, Metatarsus adductus, ... |
ORPHA:93322 |
Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Moynahan Syndrome |
|
Alopecia, Sensorineural hearing impairment, Short stature, Cachexia, Hyperkeratosis, Sparse hair |
ORPHA:2574 |
Pili Torti-Onychodysplasia Syndrome |
|
Sparse body hair, Alopecia, Conjunctival hyperemia, Brittle hair, Absent eyelashes, Alopecia univ... |
ORPHA:2890 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract, Splenomegaly |
OMIM:619813 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Palmoplantar hyperkeratosis, Alopecia totalis, Developmental cataract, Nail dysp... |
OMIM:212360 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia |
ORPHA:3177 |
Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nai... |
ORPHA:313 |
Hypotrichosis 11 |
|
Aplasia/Hypoplasia of the eyebrow, Alopecia universalis, Sparse hair, Absent axillary hair, Spars... |
OMIM:615059 |
Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, In... |
OMIM:616053 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Impaired pain sensatio... |
ORPHA:2815 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Erythroderma, Sensorineural hearing impairment, Short stature, Scarring alopecia ... |
ORPHA:35173 |
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality |
|
Congenital alopecia totalis, Alopecia universalis, Periodontitis |
OMIM:104130 |
Ichthyosis With Confetti |
|
Decreased body weight, Short stature, Palmoplantar hyperkeratosis, Scaling skin, Erythroderma, Pr... |
OMIM:609165 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Myoclonus, Tremor, Frequent falls, Dystonia |
OMIM:619647 |
Olmsted Syndrome 1 |
|
Hyperhidrosis, Orthokeratosis, Opacification of the corneal stroma, Alopecia universalis, Paraker... |
OMIM:614594 |
Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Alopecia universalis, Patchy alopecia |
ORPHA:701 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab... |
OMIM:135750 |
Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Skin rash, Skin ulcer, Eczema, Abnormality of the nail, Hy... |
ORPHA:2584 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Fingernail dysplasia, Ridged fingernail, Hypopigmented skin patches, Palmoplantar kerat... |
ORPHA:2251 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Renal dysplasia, Absen... |
OMIM:613091 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Hypogonadism, Truncal ataxia, Limb ataxia, Babinski sign, Tremor |
OMIM:615768 |
Clouston Syndrome |
|
Conjunctivitis, Alopecia, Sparse eyebrow, Small nail, Short stature, Brittle hair, Palmoplantar h... |
OMIM:129500 |
Thumb Deformity And Alopecia |
|
Alopecia, Short stature, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
Peeling Skin Syndrome 1 |
|
Short stature, Brittle hair, Palmoplantar hyperhidrosis, Onycholysis, Scaling skin, Erythroderma,... |
OMIM:270300 |
L-Ferritin Deficiency |
|
Alopecia, Decreased circulating ferritin concentration |
OMIM:615604 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Lower limb undergrowth, Abnormality of the lower limb, Cataract, Abnormality of femur morphology,... |
ORPHA:2310 |
Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Skin ulcer, Progressive sensorineural hearing impairment, Primary adrenal ins... |
ORPHA:2047 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mottled pigmentation, Alopecia, Hyperkeratotic papule, Mixed hypo- and hyperpigmentation of the s... |
ORPHA:79397 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse body hair, Sparse eyebrow, Hypohidrosis, Curly hair, Pili torti, Brittle hair, Hyperkerato... |
OMIM:602400 |
Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Thin toenail, Sparse hair, Dystrophic toenail |
OMIM:614928 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
Winchester Syndrome |
|
Hirsutism, Corneal opacity |
OMIM:277950 |
Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Toenail dysplasia, Alopecia, Hypoplastic toenails, Sparse scalp hair, Fingernail dysplasia, Ectop... |
ORPHA:2325 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Sensorineural hearing impairment, Corneal opacity |
ORPHA:1490 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty... |
ORPHA:2756 |
Bullous Dystrophy, Hereditary Macular Type |
|
Hyperpigmentation of the skin, Alopecia totalis, Severe short stature, Abnormality of the nail |
OMIM:302000 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements |
OMIM:616921 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Hypohidrosis, Fine hair, Abnormal fingernail morphology, Abnormal toenail morphology, A... |
ORPHA:248 |
Blount Disease |
|
Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti... |
ORPHA:2768 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Osteomyelitis, Sensorineural hearing impairment, Weight loss, Short sta... |
ORPHA:47 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the iris, Hypopigmentation of hair, Cataract, Corneal opacity, Pe... |
ORPHA:1067 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp... |
OMIM:612576 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Sensorineural hearing impairment, Dermal translucency, Growth delay, Esophagitis, Intrauterine gr... |
ORPHA:541423 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
Griscelli Syndrome, Type 1 |
|
Hypopigmentation of the skin, White eyelashes, White eyebrow, Accumulation of melanosomes in mela... |
OMIM:214450 |
Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Alopecia, Sparse eyebrow, Conjunctivitis, Folliculitis, Scarring alopecia of sca... |
OMIM:612843 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Short stature, Decreased testicular size, Congenital abnormal hair pattern, Spotty hypo... |
ORPHA:1867 |
Satoyoshi Syndrome |
|
Genu varum, Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of t... |
ORPHA:3130 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, Syndactyly |
OMIM:300484 |
Galactosialidosis |
|
Hearing impairment, Corneal opacity |
ORPHA:351 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Talipes equino... |
OMIM:613885 |
Quinquaud Folliculitis Decalvans |
|
Scarring alopecia of scalp, Pustule, Patchy alopecia, Erythema, Recurrent skin infections, Abnorm... |
ORPHA:346 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Pruritus, Nail dystrophy, Plantar hyperkeratosis |
OMIM:616487 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Sensorineural hearing impairment, Rhizomelia, Elevated circulating phytanic acid concen... |
OMIM:215100 |
Sézary Syndrome |
|
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Dry skin, Tremor, Erythroderma, ... |
ORPHA:3162 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Melanocytic nevus, Hypothyroidis... |
ORPHA:1882 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Small scrotum, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Hyposp... |
OMIM:607143 |
Netherton Syndrome |
|
Sparse eyebrow, Irregular hyperpigmentation, Sparse scalp hair, Trichorrhexis nodosa, Short statu... |
ORPHA:634 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me... |
ORPHA:93356 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Hyperzincemia With Functional Zinc Depletion |
|
Skin rash, Increased serum zinc |
OMIM:601979 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyebrow, Rhizomelia, Elevated 8(9)-cholestenol, Failure to thrive, Cataract, Elevated 8-de... |
OMIM:302960 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Polycystic ovaries, Ambiguous genitalia, Decreased testicular size |
ORPHA:393 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Erythroderma, Orthokeratosis, Palmoplantar keratoderma, Growth delay, Recurrent skin infections, ... |
OMIM:615508 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Pili torti, ... |
ORPHA:3361 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract, Short foot, Small hand |
OMIM:300261 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of... |
ORPHA:988 |
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Mandibular condyle hypoplasia, Ambiguous genitalia, female, Micro... |
ORPHA:2975 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Congenital alopecia totalis, Ridged nail, Nail pits |
ORPHA:169095 |
Pityriasis Rubra Pilaris |
|
Irregular hyperpigmentation, Eczema, Abnormality of the nail, Pustule, Palmoplantar keratoderma, ... |
ORPHA:2897 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Skin ulcer, Hyperkeratosis, Conjunctival hamartoma, Erythroderma, Palmoplantar kerat... |
ORPHA:312 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove... |
OMIM:201170 |
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly |
OMIM:228250 |
Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Multiple glomerular cysts, Limb unde... |
ORPHA:1505 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Large for gestational age, Microcornea |
ORPHA:2432 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Abnormality of the Achilles tendon, Rigidity, Myoclonus, Hyporeflexia of lower limbs... |
ORPHA:98763 |
Omenn Syndrome |
|
Alopecia, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Thyroiditis, Failure to thrive, Eryt... |
ORPHA:39041 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Perioral erythema, Onychogryposis, Otitis externa, Failure to thrive, Pustule,... |
OMIM:614328 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Palmoplantar hyperkeratosis, Parakeratosis, Nail dysplasia, Erythroderma, Sparse hair, ... |
OMIM:242300 |
Copper Deficiency, Familial Benign |
|
Curly hair, Decreased circulating copper concentration, Failure to thrive, Early balding, Seborrh... |
OMIM:121270 |
Pseudoprogeria Syndrome |
|
Sparse eyebrow, Alopecia, Decreased body weight, Short stature, Absent eyelashes, Failure to thri... |
ORPHA:2985 |
Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Pes cavus, Dysmetria, Tremor |
OMIM:607458 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Cataract, Micromelia |
OMIM:273680 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Pes cavus, Spastic ... |
ORPHA:251282 |
Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Macrotia, Short... |
ORPHA:2850 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o... |
OMIM:119100 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia |
OMIM:202110 |
Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, U... |
ORPHA:216873 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Renpenning Syndrome |
|
Alopecia, Macrotia, Round ear, Sensorineural hearing impairment, Decreased testicular size, Thin ... |
ORPHA:3242 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Short stature, Small for gestational age, Repetitive compulsive behavior, Eczema, Abnormal repeti... |
ORPHA:352490 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Sensorineural hearing impairment, Premature gray... |
OMIM:619947 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Keratoconjunctivitis, Weight loss, Eczema, Ataxia, Perioral eczema, Hyperammonemia, Gro... |
ORPHA:79242 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
High anterior hairline, Thin eyebrow, Recurrent hand flapping, Low-set ears, Posteriorly rotated ... |
OMIM:618147 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Iris coloboma, Progressive cataract |
OMIM:604219 |
Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Alopecia of scalp, Erythroderma, Hyperpigmentation of the skin, Pruritus, Foll... |
OMIM:608649 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Oromandibular dyston... |
ORPHA:521406 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Micrognathia, Enlarged kidney |
OMIM:618272 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Palmoplantar erythema, Sparse eyebrow, Leukonychia, Brittle hair, Epidermal hyperkerato... |
OMIM:104100 |
Incontinentia Pigmenti |
|
Skin ulcer, Supernumerary nipple, Abnormality of the nail, Hypoplastic fingernail, Abnormal toena... |
ORPHA:464 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Limb unde... |
OMIM:609441 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Alopecia, Atopic dermatitis, Osteomyelitis, Chronic oral candidiasis, Bronchiectasis, Recurrent s... |
OMIM:618282 |
Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of the nail, Abnorma... |
ORPHA:2889 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Brittle hair, Allergic rhinitis, Brittle scalp hair, Parakerat... |
OMIM:256500 |
Lichen Planopilaris |
|
Alopecia, Hepatitis, Skin ulcer, Pterygium, Hypopigmented skin patches, Abnormal fingernail morph... |
ORPHA:525 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Cataract, Split hand, Hand monodactyly |
OMIM:183800 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
Keratoderma Hereditarium Mutilans |
|
Alopecia, Sensorineural hearing impairment, Honeycomb palmoplantar hyperkeratosis, Abnormality of... |
ORPHA:494 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inability to walk, Excessive wrinkled skin, Ataxia, Abnormal cornea morphology, Corneal opacity, ... |
ORPHA:357058 |
Woolly Hair |
|
Sparse body hair, Abnormal pupil morphology, Sparse lateral eyebrow, Brittle hair, Fine hair, Woo... |
ORPHA:170 |
Foxg1 Syndrome |
|
Decreased body weight, Inability to walk, Stereotypical hand wringing, Short stature, Choreoathet... |
ORPHA:561854 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Short phalanx of finger, Short lower limbs, Delayed ossification of carpal bones, Lower limb unde... |
OMIM:127200 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Abnormal eyebrow morphology, Sensorineural hearing impairment, Ataxi... |
ORPHA:2885 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Sparse body hair, Alopecia, Pili torti, Brittle hair, Absent eyelashes, Temporal hypotrichosis, O... |
OMIM:602032 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Gait imbalance, Inability to walk, Skin ulcer, Impaired distal tactile sensation, ... |
ORPHA:36386 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Alopecia, Rhizomelia, Short stature, Cataract, Growth delay, Dry skin |
ORPHA:177 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Fine hair, Abnormality of the nail, Cataract, Abnormal... |
ORPHA:573 |
Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
Slc35A2-Cdg |
|
Short tibia, Camptodactyly of finger, Hip subluxation, Precocious puberty, Coxa valga, Abnormal l... |
ORPHA:356961 |
Crandall Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sensorineural hearing impairment, ... |
ORPHA:202 |
Hurler-Scheie Syndrome |
|
Rhinitis, Sensorineural hearing impairment, Short stature, Corneal opacity, Generalized hirsutism |
ORPHA:93476 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic gait, Babinski sign, Pes cavus, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus |
OMIM:600363 |
Mucolipidosis Type Iii |
|
Hearing abnormality, Corneal opacity, Short stature, Acne |
ORPHA:577 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hypothyroidism, Chronic oral candidiasis, Thyroiditis, Alopecia universalis, Eczema, Scaling skin... |
OMIM:606367 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin... |
OMIM:258860 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Increased u... |
ORPHA:85188 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Severe postnatal growth retardation, Severe short stature, Large fleshy ears |
OMIM:203550 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Obesity, Hirsutism, Acne |
OMIM:604931 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili... |
ORPHA:85170 |
Short Syndrome |
|
Abnormal pupil morphology, Alopecia, Megalocornea, Sensorineural hearing impairment, Posterior em... |
ORPHA:3163 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Paresthesia, Hypokalemia, Cachexia, Nail dysplasia, Cataract, Xerostomia, Hyperpigmenta... |
OMIM:175500 |
Acrodermatitis Enteropathica |
|
Conjunctivitis, Alopecia, Abnormal eyebrow morphology, Corneal erosion, Weight loss, Short statur... |
ORPHA:37 |
Classic Phenylketonuria |
|
Lack of skin elasticity, Hypopigmentation of the skin, Hyperphenylalaninemia, Eczema, Hypopigment... |
ORPHA:79254 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Intrauterine growth retardation |
ORPHA:1980 |
Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, Tremor, Inv... |
ORPHA:454887 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tetraparesis, Tremor, Dystonia |
OMIM:615924 |
Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Involuntary movements, Gener... |
ORPHA:99657 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypospadias, Adrenal hyperplasia |
OMIM:201910 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Premature graying of hair, Generalized hyperpigmentation, Ataxia, H... |
ORPHA:33445 |
Pachyonychia Congenita |
|
Alopecia, Angular cheilitis, Ear pain, Palmoplantar hyperhidrosis, Fingernail dysplasia, Failure ... |
ORPHA:2309 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Corneal opacity, Short stature, Intrauterine growth retardation |
ORPHA:2370 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S... |
OMIM:201810 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Hypohidrosis, Conductive hearing impairment, Microtia, Absent eyelashes, Failure to thr... |
ORPHA:2316 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Hypothyroidism, Hypoplastic helices, Frontal upsweep of hair, Abnormality of the ear, Decreased s... |
ORPHA:391372 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Decreased circulating aldosterone level, Increased circulating cortisol level, Chronic ... |
ORPHA:3453 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Eczema, Scaling skin, Nail dysplasia, Subungual hyperkeratosis, Erythroderma, Recurrent skin infe... |
OMIM:308205 |
Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Torticollis, Myoclonus, Tremor, Craniofacial dystonia, Laryngeal dystoni... |
OMIM:617284 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp... |
ORPHA:79106 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Pedal edema, Genu valgum, Reduced proximal interphalangeal joint space, Coxa vara, Short femoral ... |
ORPHA:166011 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Sensorineural hearing impairment, Premature graying of hair |
OMIM:600193 |
Nicolaides-Baraitser Syndrome |
|
Alopecia, Abnormal testis morphology, Long eyelashes, Eczema, Severe short stature, Abnormal hair... |
ORPHA:3051 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Hypoplasia of penis, Hypospadias, Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Prolidase Deficiency |
|
Crusting erythematous dermatitis, Skin ulcer, Abnormality of retinal pigmentation, Abnormality of... |
ORPHA:742 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Enlarged kidney, Hand polydactyly, Proximal placement of thumb, Absent radius, ... |
OMIM:314390 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Corneal erosion, Glomerulonephritis, Palmoplantar keratoderma, Delayed puberty, Growth delay, Gas... |
ORPHA:79408 |
Cdkl5-Deficiency Disorder |
|
Stereotypical hand wringing, Synophrys, Gait disturbance, Impaired pain sensation, Difficulty wal... |
ORPHA:505652 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Knee flexion contracture, Tapered toe, Tapered finger, Renal dysplasia, Abnormal foot morphology,... |
OMIM:608836 |
Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Brittle hair, Small for gestational age, Decreased serum iron, Woolly hair,... |
OMIM:614602 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Hypothyroidism, Postural tremor, Iridocyclitis, Truncal ataxia, Pancreatitis, Limb atax... |
ORPHA:412057 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Lack of skin elasticity, Alopecia totalis, Cataract, Palmoplantar keratoderma, Nail dystrophy |
ORPHA:1366 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Sensorineural hearing impairment, Palmoplantar hyperhidrosis, Anhidrosis, Skin ulcer, A... |
ORPHA:659 |
Multiple Carboxylase Deficiency |
|
Alopecia, Skin rash, Ataxia, Hyperammonemia, Hearing impairment |
ORPHA:148 |
Incontinentia Pigmenti |
|
Breast aplasia, Supernumerary nipple, Nail dysplasia, Coarse hair, Sparse hair, Alopecia, Uveitis... |
OMIM:308300 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Hypoplastic to... |
ORPHA:2930 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Epidermal hyperkeratosis, Ataxia, Erythroderma, Int... |
OMIM:133190 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Decrease... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Pituitary hypothyroidism, Childhood-onset truncal obesity, Hypopigmentation of the skin, Decrease... |
ORPHA:71526 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Renal hypoplasia/aplasia, Micrognathia, Hip dysplasia... |
ORPHA:1988 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Tremor, Limb dysmetr... |
OMIM:213600 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Skin rash, Ataxia, Hyperammonemia, Re... |
OMIM:253260 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Ataxia... |
OMIM:617145 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Sensorineural hearing impairment, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycom... |
ORPHA:79395 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Hypohidrosis, Orthokeratosis, Parakeratosis, Scaling skin, Hyperkeratosis, Erythroderma, Palmopla... |
OMIM:612281 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Macrotia, Decreased body weight, Short stature, Small for gestational age, Cataract, Posteriorly ... |
OMIM:618392 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Cataract, Brachydactyly |
OMIM:132450 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age, Bruxism |
ORPHA:356996 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Monilethrix |
|
Alopecia, Brittle hair, Nail dysplasia, Abnormality of hair texture, Sparse hair, Nail dystrophy,... |
OMIM:158000 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e... |
ORPHA:1106 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Christianson Syndrome |
|
Gait ataxia, Macrotia, Truncal ataxia, Cachexia, Abnormal repetitive mannerisms, Thick eyebrow, D... |
ORPHA:85278 |
Johnson Neuroectodermal Syndrome |
|
Alopecia, Hypohidrosis, Conductive hearing impairment, Short stature, Microtia, Absent eyelashes,... |
OMIM:147770 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Nail pits |
OMIM:601705 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Hypohidrosis, Small nail, Anhidrosis, Thin nail, Hyperkeratosis, Erythema, Growth delay... |
OMIM:242100 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Hypothyroidism, Hepatitis, Arthritis, Eczema, Failure to thrive, Glomerulonephritis, Er... |
OMIM:304790 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Truncal ataxia, Myoclonus, Tremor, Cogwheel rigidity, Limb dysmetria |
ORPHA:363710 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Short thumb, Cataract, Short metacarpal |
ORPHA:2489 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Short stature, Albinism, Pallor, Hypopigmentation of hair |
ORPHA:2786 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Hyperalaninemia, Hyperglycinemia, Decreased response to growth horm... |
ORPHA:470 |
Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Bilateral cryptorchidism, Erythroderma |
OMIM:618840 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy... |
OMIM:609945 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Short foot, Small hand, Dysdiadochokinesis, Truncal ataxia, Dysmetria, Tremor, Short palm |
OMIM:610185 |
Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Scaling skin, Failure to thrive, Erythroderma, Hyperkeratosis, Dry skin |
OMIM:609180 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism, Short stature |
ORPHA:90023 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating renin, Adrenal hyperp... |
ORPHA:404 |
Phenylketonuria |
|
Generalized hypopigmentation, Fair hair, Hyperphenylalaninemia, Eczema, Maternal hyperphenylalani... |
OMIM:261600 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Hypoplastic toenails, Small nail, Sparse scalp hair, Pili torti, Absent facial hair, Pa... |
OMIM:613573 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Pigmentary retinopathy, Alopecia, Hypothyroidism, Atrophic gastritis, Tympanosclerosis, Chronic o... |
OMIM:240300 |
Trichothiodystrophy |
|
Tiger tail banding, Keratoconjunctivitis sicca, Eczema, Bilateral sensorineural hearing impairmen... |
ORPHA:33364 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Alopecia, Malar rash, Myelitis, Optic neuritis |
OMIM:301080 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora... |
ORPHA:95699 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Hypohidrosis, Sparse scalp hair, Eczema, Palmoplantar keratoderma, Sparse eyela... |
OMIM:618535 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer, Abnormality of the nail |
OMIM:610448 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Dry skin, Congenital exfoliative erythroderma, Hypoalbuminemia |
ORPHA:1954 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
Microtriplication 11Q24.1 |
|
Short stature, Synophrys, Bruxism, Long eyelashes, Obesity, Hyperlipidemia, Attached earlobe, Ker... |
ORPHA:289522 |
Dermatitis, Atopic |
|
Facial erythema, Conjunctivitis, Allergic rhinitis, Eczema, Pallor, Cataract, Dry skin, Recurrent... |
OMIM:603165 |
Skin Fragility-Woolly Hair Syndrome |
|
Sparse eyebrow, Palmoplantar erythema, Alopecia, Palmoplantar hyperkeratosis, Woolly hair, Palmop... |
OMIM:607655 |
Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Abnormality of the pubic hair, Pruritus, Allergic... |
ORPHA:90368 |
Endocrine-Cerebroosteodysplasia |
|
Microphallus, Fibular bowing, Micrognathia, Enlarged kidney, Hitchhiker thumb, Brachydactyly, Syn... |
OMIM:612651 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Small hand, Hypoplasia of the odontoid process, Cone-shaped epiphyses of the phalanges of the han... |
ORPHA:85172 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop... |
OMIM:601559 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... |
ORPHA:90791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Short stature, Hirsutism, Bruxism |
OMIM:300434 |
Cutis Laxa, Autosomal Dominant 3 |
|
Cutis laxa, Premature skin wrinkling, Developmental cataract, Corneal opacity, Low-set ears, Intr... |
OMIM:616603 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Opacificatio... |
OMIM:164900 |
4Q21 Microdeletion Syndrome |
|
Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Tremor, Growth delay, Intrauterine gro... |
ORPHA:238750 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Short stature, Generalized hyperpigmentation |
ORPHA:1355 |
Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Corneal dystrophy, Fine hair, Cataract, Hyperkeratosis, Sparse hair |
ORPHA:1839 |
Hypohidrotic Ectodermal Dysplasia |
|
Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Trichorrhexis nodosa, Hypohidrosi... |
ORPHA:238468 |
Aniridia And Absent Patella |
|
Cataract, Aplasia/Hypoplasia of the patella, Aniridia |
OMIM:106220 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Cataract, Increased circulating ferritin concentration, Fragil... |
ORPHA:254704 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Gait ataxia, Short stature, Recurrent hand flapping, Hand tremor, Broad-based gait |
OMIM:617862 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Chronic monilial nail infection, Keratoconjunctivitis, Corneal neovascularization, Chro... |
OMIM:158310 |
Sialidosis Type 2 |
|
Short stature, Ataxia, Tremor, Corneal opacity, Hearing impairment |
ORPHA:87876 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Alopecia, Hypohidrosis, Macrotia, Moderate postnatal growth retard... |
ORPHA:1005 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Rhizomelia, Stage 5 chronic kidney disease, Short iliac bones, Pes val... |
OMIM:614376 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Short stature, Ataxia, Low-set e... |
OMIM:601853 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Short stature, Abnormal repetitive mannerisms, Overweight, Difficulty walking, Dystonia, Waddling... |
ORPHA:280763 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Sensorineural hearing impairment, Microtia, Ataxia, Subcapsular cataract |
OMIM:275630 |
Baralle-Macken Syndrome |
|
Striae distensae, Cafe-au-lait spot, Inability to walk, Cataract, Hirsutism, Obesity, Dystonia |
OMIM:619255 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly |
OMIM:612126 |
Hypomelanosis Of Ito |
|
Alopecia, Iris coloboma, Macular hypopigmented whorls, streaks, and patches, Cataract |
OMIM:300337 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Aplasia of the phalanges of the 3rd toe, Hypergonadotropi... |
ORPHA:2229 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Tibial torsion, Renal malrotation, En... |
ORPHA:500095 |
Diaphanospondylodysostosis |
|
Micrognathia, Enlarged kidney, Missing ribs, Narrow pelvis bone, Cystic renal dysplasia, Nephroge... |
OMIM:608022 |
Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Premature graying of hair, Hypopigmented skin patches, White fo... |
ORPHA:895 |
Bresek Syndrome |
|
Alopecia, Decreased testicular size, Iris coloboma, Growth delay, Cryptorchidism, Intrauterine gr... |
ORPHA:85284 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Femoral bowing, Hepatomegaly, Talipes equinovarus |
OMIM:615415 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Large earlobe, Prom... |
ORPHA:411986 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Abnor... |
ORPHA:290 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Accumulation of melanosomes in melanocytes, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
Fraxe Intellectual Disability |
|
Short stature, Recurrent hand flapping, Compulsive behaviors, Prominent ear helix, Stereotypical ... |
ORPHA:100973 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Cataract, Nephronophthisis, Cone-shaped epiphysis, Chronic kidney... |
ORPHA:3156 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Atrophic gastritis, Pyoderma gangrenosum, Bronchiectasis, Recurrent sinusitis, Recurren... |
OMIM:616576 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
Rapp-Hodgkin Syndrome |
|
Sparse eyebrow, Hypohidrosis, Small nail, Short stature, Supernumerary nipple, Fine hair, Onychog... |
OMIM:129400 |
Juvenile Sialidosis Type 2 |
|
Generalized hypertrichosis, Ataxia, Cataract, Dysmetria, Loss of ambulation, Corneal opacity, Low... |
ORPHA:93399 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Congenital posterior o... |
ORPHA:79414 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer, Sparse scalp hair |
ORPHA:492 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Tremor, Fasciculations, Calf muscle hypertrophy |
OMIM:313200 |
Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Allergic rhinitis, Progressive hyperpigmentation, Eczema, Hypopigme... |
ORPHA:330064 |
Mietens Syndrome |
|
Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Hypoplasia of the rad... |
ORPHA:2557 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
Squalene Synthase Deficiency |
|
Decreased LDL cholesterol concentration, Macrotia, Abnormality of hair pigmentation, Bilateral cr... |
OMIM:618156 |
Bjornstad Syndrome |
|
Alopecia, Dry hair, Sensorineural hearing impairment, Pili torti, Brittle hair, Anhidrosis, Coars... |
OMIM:262000 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Porphyria Cutanea Tarda |
|
Onycholysis, Alopecia, Hyperpigmentation in sun-exposed areas, Facial hypertrichosis |
OMIM:176100 |
Kid Syndrome |
|
Prelingual sensorineural hearing impairment, Corneal erosion, Acne inversa, Keratoconjunctivitis ... |
ORPHA:477 |
Waardenburg Syndrome, Type 4A |
|
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Atax... |
OMIM:277580 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Osteomyelitis, Corneal scarring, Opacification of the corneal stroma, Anhidros... |
OMIM:256800 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Cystinosis |
|
Hypothyroidism, Short stature, Hypophosphatemia, Hypokalemia, Gait disturbance, Abnormal repetiti... |
ORPHA:213 |
Tyrosinemia Type 2 |
|
Hyperhidrosis, Abnormality of the nail, Ataxia, Tremor, Corneal opacity, Hyperkeratosis, Palmopla... |
ORPHA:28378 |
Familial Hyperaldosteronism Type I |
|
Secretory adrenocortical adenoma, Abnormal circulating renin, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal... |
ORPHA:166016 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Small hand, Spastic tetraplegia, Spastic gait, Resting tremor, Micrognathia, Park... |
OMIM:300055 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:203780 |
Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Cutis laxa, Eczema, Failure to thrive, Cataract, Dry skin, Low-... |
OMIM:612379 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Posterior embryotoxon, Cataract, Iris coloboma, Corneal opacity |
ORPHA:1473 |
Transketolase Deficiency |
|
Conjunctivitis, Uveitis, Compulsive behaviors, Abnormal repetitive mannerisms, Cataract, Elevated... |
ORPHA:488618 |
Morquio Syndrome C |
|
Severe short stature, Corneal opacity |
OMIM:252300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
2Q23.1 Microdeletion Syndrome |
|
Short stature, Synophrys, Abnormal repetitive mannerisms, Ataxia, Growth delay, Highly arched eye... |
ORPHA:228402 |
Isolated Agammaglobulinemia |
|
Short stature, Skin rash, Inflammatory abnormality of the eye, Skin ulcer, Arthritis, Failure to ... |
ORPHA:229717 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Hemiatrophy, Tremor, Dystonia, Bradykinesia |
ORPHA:306669 |
Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Cryptorchidism |
OMIM:218550 |
Sialidosis Type 1 |
|
Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Cataract, Tremor, Corn... |
ORPHA:812 |
Familial Benign Copper Deficiency |
|
Early balding, Decreased circulating copper concentration, Short stature, Acne |
ORPHA:1551 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger... |
OMIM:268305 |
Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Small hand, Tremor, Hypertonia, Short foot, Dy... |
OMIM:617435 |
Reticular Dysgenesis |
|
Weight loss, Skin rash, Skin ulcer, Failure to thrive, Hearing impairment, Chronic otitis media |
ORPHA:33355 |
Smith-Magenis Syndrome |
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Hypothyroidism, Hypertriglyceridemia, Conductive hearing impairment, Short stature, Synophrys, Ga... |
ORPHA:819 |
Pachydermoperiostosis |
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Hyperhidrosis, Osteomyelitis, Arthritis, Abnormal fingernail morphology, Abnormal hair quantity, ... |
ORPHA:2796 |
Spinocerebellar Ataxia 7 |
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Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Congenital Sialidosis Type 2 |
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Petechiae, Generalized hypertrichosis, Developmental cataract, Ataxia, Cataract, Dysmetria, Corne... |
ORPHA:93400 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
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Sparse eyebrow, Cutis laxa, Absent axillary hair, Scaling skin, Alopecia of scalp, Absent pubic h... |
ORPHA:2269 |
Alpha-Heavy Chain Disease |
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