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 |
|
Hypothyroidism, Hypertriglyceridemia, Conductive hearing impairment, Short stature, Synophrys, Ga... |
ORPHA:819 |
Pachydermoperiostosis |
|
Hyperhidrosis, Osteomyelitis, Arthritis, Abnormal fingernail morphology, Abnormal hair quantity, ... |
ORPHA:2796 |
Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
Congenital Sialidosis Type 2 |
|
Petechiae, Generalized hypertrichosis, Developmental cataract, Ataxia, Cataract, Dysmetria, Corne... |
ORPHA:93400 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Cutis laxa, Absent axillary hair, Scaling skin, Alopecia of scalp, Absent pubic h... |
ORPHA:2269 |
Alpha-Heavy Chain Disease |
|
Alopecia, Hypocalcemia, Growth delay |
ORPHA:100025 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol... |
OMIM:251230 |
Adrenoleukodystrophy |
|
Alopecia, Impaired vibration sensation at ankles, Truncal ataxia, Limb ataxia, Elevated circulati... |
OMIM:300100 |
Mal De Meleda |
|
Hyperhidrosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis... |
ORPHA:87503 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Short stature, Abnormal testis morphology, Gait disturbance, Ataxia, F... |
ORPHA:100 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Splenomegaly, Nephrotic syndrome, Enlarged kidney, Flared iliac wing, Acet... |
OMIM:617303 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... |
ORPHA:96181 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Pes cavus, Dysmetria, Tremor, Hammertoe |
OMIM:618387 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Sparse eyebrow, Conjunctivitis, Folliculitis, Corneal dystrophy, Keratitis, Scar... |
OMIM:308800 |
Stickler Syndrome Type 2 |
|
Cataract, Sensorineural hearing impairment, Corneal opacity |
ORPHA:90654 |
Free Sialic Acid Storage Disease |
|
Abnormality of skin pigmentation, Iris hypopigmentation, Skin ulcer, Gait disturbance, Ataxia, At... |
ORPHA:834 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Alopecia, Anterior pituitary hypoplasia, Progressive hearing impairment, ... |
ORPHA:453533 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Alopecia, Hypothyroidism, Hyperuricemia, Decreased response to grow... |
OMIM:203800 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Re... |
OMIM:616300 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Congenital exfoliative erythroderma, Hypoalbuminemia |
OMIM:227090 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Dystonia, Bradykinesia |
OMIM:128235 |
Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Dystonia |
OMIM:618093 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Impaired vibration sensation in the lower limbs, Osteomyelitis, Anhidrosis, Skin ulcer, Hand pare... |
OMIM:613640 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
Buerger Disease |
|
Hyperhidrosis, Skin ulcer, Paresthesia |
ORPHA:36258 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small nail, Short stature, Small for gestational age, Redundant neck skin, Elevated circulating c... |
OMIM:301056 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of the skin, Iris hypopigmentation, Ataxia, Hypopigmentation of hair, Obesity, B... |
ORPHA:411515 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Limb ataxia, Tremor, Frequent falls, Splenomegaly, Talipes equinovarus |
OMIM:616719 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
Pseudopelade Of Brocq |
|
Alopecia, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, Recurren... |
ORPHA:129 |
Acrogeria |
|
Irregular hyperpigmentation, Short stature, Skin ulcer, Fine hair, Excessive wrinkled skin |
ORPHA:2500 |
Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Cutis laxa, Brittle hair, Short stature, Decreased circul... |
OMIM:309400 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Short stature, Testicular seminoma, Corneal opacity, Cryptorchidism, Hyperkeratosis |
ORPHA:281090 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Ab... |
ORPHA:3320 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Ab... |
ORPHA:2725 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hypoornithinemia, Corneal arcus, Macrotia, Cutis laxa, Short stature, Hypoprolinemia, Failure to ... |
OMIM:219150 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Bruxism |
OMIM:615493 |
Xeroderma Pigmentosum, Complementation Group G |
|
Pes cavus, Spasticity, Tremor, Ataxia |
OMIM:278780 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Sensorineural hearing impairment, Petechiae, Skin rash, Purpura, Ecchymosis... |
ORPHA:540 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Abnormality of iron homeostasis, Pallor |
ORPHA:75563 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Hematuria |
OMIM:120433 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Short stature, Brittle hair, Failure to thrive, Hyperpigmentation of the skin, Intraute... |
ORPHA:50812 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Cerebral palsy, Adrenal hyperplasia, Spastic paraplegia, Abnormal circulating... |
ORPHA:369929 |
Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Spotty hyperpigmentation, ... |
ORPHA:324737 |
Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Talipes cavus equinovarus, Progressive cerebellar ata... |
ORPHA:139485 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Dysdiad... |
ORPHA:289494 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Palmar hyperhidrosis, Plantar hyperkeratosis, Fragile nails, Patchy alopecia, Nail dystrophy |
OMIM:226650 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Inability to walk, Decreased circulating ceruloplasmin concentration, Developmental cataract, Dec... |
OMIM:614482 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Pruritus, Skin ulcer, Erythema |
ORPHA:2337 |
Gm1 Gangliosidosis |
|
Macrotia, Aspiration pneumonia, Weight loss, Short stature, Gait disturbance, Ataxia, Failure to ... |
ORPHA:354 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Harlequin Ichthyosis |
|
Hearing abnormality, Hyperkeratosis, Cataract, Erythroderma |
ORPHA:457 |
De Barsy Syndrome |
|
Cutis laxa, Dermal translucency, Short stature, Large earlobe, Failure to thrive, Cataract, Corne... |
ORPHA:2962 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Megalocornea, Sensorineural hearing impairment, Short stature, Hypoplasia of the ... |
ORPHA:2479 |
Hypotrichosis 5 |
|
Alopecia, Hearing abnormality, Thin eyebrow, Abnormality of the nail, Abnormal sweat gland morpho... |
OMIM:612841 |
Xeroderma Pigmentosum |
|
Melanocytic nevus, Freckling, Hearing impairment, Alopecia, Pterygium, Conjunctival telangiectasi... |
ORPHA:910 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Erythroderma, Failure to thrive, Alopecia, Psoriasiform lesion |
ORPHA:169154 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Dyskeratosis Congenita |
|
Premature graying of hair, Abnormal testis morphology, Neoplasm of the pancreas, Skin ulcer, Abno... |
ORPHA:1775 |
Immunodeficiency 58 |
|
Recurrent aphthous stomatitis, Bronchiectasis, Allergic rhinitis, Short stature, Eczema, Cutaneou... |
OMIM:618131 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Popliteal pterygium, Mirror image f... |
OMIM:119800 |
Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Titu... |
ORPHA:397946 |
Recessive X-Linked Ichthyosis |
|
Hypohidrosis, Hyperkeratosis, Cryptorchidism, Opacification of the corneal stroma, Dry skin |
ORPHA:461 |
Hemifacial Atrophy, Progressive |
|
Ataxia, Poliosis, Patchy alopecia, Microtia |
OMIM:141300 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of the skin, Short stature, Iris hypopigmentation, Hypopigmentation of hair, Obe... |
ORPHA:177910 |
Dracunculiasis |
|
Skin rash, Arthritis, Skin ulcer, Recurrent cutaneous abscess formation, Pruritus |
ORPHA:231 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Gait ataxia, Low-set ears, Recurrent hand flapping, Posteriorly rotated ears |
OMIM:619717 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Micrognathia, Flared iliac wing, Camptodactyly, Hip dislocation, Hep... |
OMIM:252500 |
Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Hearing impairment, Alopecia |
ORPHA:337 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Alopecia, Small earlobe, Sensorineural hearin... |
ORPHA:98907 |
Griscelli Syndrome Type 1 |
|
Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Hyperlipidemia, Partial alb... |
ORPHA:79476 |
Piebaldism |
|
Piebaldism, Synophrys, White eyelashes, White eyebrow, Ataxia, Hypopigmented skin patches, White ... |
ORPHA:2884 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Alopecia, Hyperphosphatemia, Hyperthyroidism, Abnormal testis morphology, Abnormal hair quantity,... |
ORPHA:457059 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Sensorineural hearing impairment, Premature grayi... |
ORPHA:3437 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Microtia, Synophrys, Recurrent otitis media, Corneal opacity, Keratitis, Thick ey... |
OMIM:602562 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hypopigmentation of the skin, Onychogryposis, Failure to thrive, Depigmentation/hyperpi... |
ORPHA:79396 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Hypopigmentation of the skin, Increased serum iron, Abnormal... |
ORPHA:101330 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Decreased prealbumin level, Crusting erythematous dermatitis, Cachexia, Eczema, A... |
ORPHA:37042 |
Rodrigues Blindness |
|
Short stature, Fine hair, Microcornea, Sclerocornea, Sparse hair, Protruding ear |
OMIM:268320 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Macrotia, Decreased response to growth hormone stimulation test, Short stature, Decreased testicu... |
ORPHA:457240 |
Atelosteogenesis Type Iii |
|
Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn... |
ORPHA:56305 |
Waardenburg Syndrome, Type 2A |
|
Sensorineural hearing impairment, Premature graying of hair, Albinism, Synophrys, White eyelashes... |
OMIM:193510 |
Fucosidosis |
|
Hypothyroidism, Hyperhidrosis, Abnormality of the nail, Failure to thrive, Corneal opacity, Gener... |
ORPHA:349 |
Congenital Varicella Syndrome |
|
Cataract, Micromelia |
ORPHA:291 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog... |
ORPHA:2634 |
Pemphigus Foliaceus |
|
Skin vesicle, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Erythema, Erythr... |
ORPHA:79481 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Low anterior hairline, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Abnormality of skin pigmentation, Ataxia, Failure to thrive, Intrauterine growth retard... |
OMIM:616353 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Obesity, Eczema, Broad-based gait, Compulsive behaviors, Failure to thrive, Astigmatism, Posterio... |
ORPHA:369950 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma, Ataxia |
OMIM:271310 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Dystrophic toenail, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse lateral eyebrow, Pili tor... |
ORPHA:3253 |
Harel-Yoon Syndrome |
|
Inability to walk, Ataxia, Developmental cataract, Corneal opacity, Dystonia |
OMIM:617183 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Pes cavus, Dysmetria, Tremor |
OMIM:213200 |
Congenital Disorder Of Glycosylation, Type Im |
|
Sparse eyebrow, Alopecia, Increased circulating free fatty acid level, Inflammatory abnormality o... |
OMIM:610768 |
Alpha-Mannosidosis |
|
Macrotia, Arthritis, Cataract, Chronic otitis media, Corneal opacity, Hearing impairment, Abnorma... |
ORPHA:61 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Hyperleucinemia, Decreased plasma carnitine, Acute hyperammonemia, Failure to thrive, H... |
OMIM:210210 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Weight loss, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumo... |
ORPHA:139402 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Premature graying of hair, Short stature, Fine hair, Ataxia, Nail dysplasia, Reticulate... |
OMIM:613990 |
Usher Syndrome Type 3 |
|
Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Vestibula... |
ORPHA:231183 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hai... |
OMIM:256710 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
Leprosy |
|
Sparse body hair, Alopecia, Hypohidrosis, Paresthesia, Testicular mass, Iritis, Corneal ulceratio... |
ORPHA:548 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Tremor, Thrombocytopenia, Dystonia, Splenomegaly |
OMIM:615010 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Scaling skin, Alopecia of scalp, Dry skin, Freckling, Conjunctival... |
OMIM:618373 |
Monosomy 18P |
|
Abnormal antihelix morphology, Alopecia, Hypothyroidism, Macrotia, Short stature, Low posterior h... |
ORPHA:1598 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Hyperkeratosis, Erythroderma |
OMIM:615024 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Recurrent aphthous stomatitis, Weight loss, Short stature, Thyroiditis, Eczema, Stomati... |
OMIM:212750 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Conductive hearing impairment, Inability to walk, Stereotypical hand wringing, Choreoathetosis, D... |
OMIM:618497 |
Waardenburg Syndrome, Type 4B |
|
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Hypo... |
OMIM:613265 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity, Alopecia, Abnormal eyebrow morphology, Short stature, Absent eyelashes, ... |
ORPHA:90153 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Genu varum, Genu valgum, Metaphyseal irregularity, Bulging epiphyses, Rickets of the lower limbs,... |
OMIM:600785 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Pes cavus, Dysmetria, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Melanocytic nevus, Short stature, Small pituitary gland, Delayed puberty, Central adren... |
OMIM:612079 |
Hyperparathyroidism, Transient Neonatal |
|
Short long bone, Short ribs, Enlarged kidney, Unilateral renal agenesis, Short femur, Femoral bow... |
OMIM:618188 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Bazex Syndrome |
|
Hypohidrosis, Trichorrhexis nodosa, Pili torti, Acne inversa, Eczema, Coarse hair, Trichoepitheli... |
OMIM:301845 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Skin ulcer |
ORPHA:2028 |
Björnstad Syndrome |
|
Alopecia, Sensorineural hearing impairment, Brittle hair |
ORPHA:123 |
19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Cachexia, Supernumerary nipple, Fine hair, Microcornea, Failure to thrive... |
ORPHA:217346 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Skin ulcer, Gait disturbance, Foot osteomyelitis, Impaired pain sensation, Acral ulceration |
ORPHA:139578 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Hemiparesis, Ataxia, Tremor, Hypergonadotropic hypogonadism, Intention tremor |
OMIM:614307 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hand polydactyly, Hypoplasia of penis, Iris coloboma, Cataract, Brachydactyly,... |
ORPHA:2377 |
Epidermolytic Hyperkeratosis |
|
Scaling skin, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
Idiopathic Trachyonychia |
|
Toenail dysplasia, Atopic dermatitis, Fingernail dysplasia, Thin nail, Nail pits, Circumungual hy... |
ORPHA:79153 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Hypohidrosis, Short stature, Alopecia universalis, Chapped lip, Scaling skin, Failure to thrive, ... |
ORPHA:158668 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Paresthesia, Short stature, Small for gestational age, Hyperpigmented nevi, Neoplasm of... |
ORPHA:2959 |
Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar hyperkeratosis, Woolly hair, Parakeratosis, Palmoplantar kerat... |
OMIM:619208 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Recurrent hand flapping, Ata... |
ORPHA:411511 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathi... |
OMIM:617925 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Sensorineural hearing impairment, Short stature, Ocular albinism, Iris hypopigmentation, Ataxia, ... |
ORPHA:2719 |
Jaberi-Elahi Syndrome |
|
Gait ataxia, Sparse eyebrow, Inability to walk, Brittle hair, Choreoathetosis, Fine hair, Broad-b... |
OMIM:617988 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Short stature, Astigmatism, External ear malformation, Hypoparathyroidism, Cor... |
ORPHA:2323 |
Kury-Isidor Syndrome |
|
Alopecia, Recurrent otitis media, Astigmatism, Growth delay, Low-set ears, Hypertrichosis |
OMIM:619762 |
Omenn Syndrome |
|
Alopecia, Hypoplasia of the thymus, Failure to thrive, Hypoproteinemia, Erythroderma, Pneumonia |
OMIM:603554 |
Tangier Disease |
|
Impaired pain sensation, Nail dysplasia, Dry skin, Decreased HDL cholesterol concentration, Impai... |
OMIM:205400 |
Werner Syndrome |
|
Lack of skin elasticity, Sparse scalp hair, Pili torti, Premature graying of hair, Short stature,... |
ORPHA:902 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Eczema, Elevated circulating creatine kinase concentration, Failure to thrive, Inf... |
OMIM:615895 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Palmoplantar keratoderma, Sparse hair, Ovarian neoplasm |
ORPHA:50944 |
X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism with favorable resp... |
ORPHA:53351 |
Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Developmental cataract, Low-set ears, Low anterior hairline, Protruding ear |
OMIM:614219 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia |
OMIM:617917 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Hypohidrosis, Erythroderma |
OMIM:615023 |
Giant Cell Arteritis |
|
Alopecia, Hyperhidrosis, Conductive hearing impairment, Paresthesia, Weight loss, Arthritis, Skin... |
ORPHA:397 |
Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Coarse hair, Sparse or absent eye... |
ORPHA:444 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Widow's peak, Abnormality of cartilage of external ear, Cataract, Abnormal eyelas... |
ORPHA:2399 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the ovary, Decreased pr... |
ORPHA:543 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyebrow, Recurrent bacterial skin infections, Hypohidrosis, Sensorineural hearing impairme... |
OMIM:148210 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Primary hypercortisolism, Diabetes mellitus, Adrenal hyperplasia, Increased circulating cortisol ... |
OMIM:615830 |
Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches,... |
ORPHA:894 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre... |
ORPHA:90790 |
Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Palmoplantar hyperkeratosis, Alopecia totalis, Parakeratosis, Palmoplantar... |
OMIM:300918 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Brooke-Spiegler Syndrome |
|
Cylindroma, Skin appendage neoplasm, Abnormality of the sublingual glands, Skin ulcer, Abnormalit... |
ORPHA:79493 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Chorea, Falls, Ataxia, Dystonia, Bruxism |
OMIM:619150 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Sensorineural hearing impairment, Supernumerary nipple, Posteriorly rotated ears, Trunc... |
ORPHA:3224 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Small for gestational age, Developmental cataract, Cataract, Growth delay, Intrauterine growth re... |
OMIM:610756 |
Ameloonychohypohidrotic Syndrome |
|
Onycholysis, Hypohidrosis, Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Distal Trisomy 6P |
|
Aplasia/Hypoplasia of the earlobes, Short stature, Abnormal antitragus morphology, Fine hair, Abn... |
ORPHA:1745 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Uterus didelphys, Short 1st metacarpal, Micrognath... |
OMIM:164745 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Int... |
OMIM:603358 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M... |
OMIM:258315 |
Hereditary Acrokeratotic Poikiloderma |
|
Dystrophic toenail, Irregular hyperpigmentation, Keratoconjunctivitis, Short stature, Skin ulcer,... |
ORPHA:2907 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Fair hair, Blue irides, Congenital hypothyroidism, Cryptorchidism, Red hair, Mild short stature, ... |
OMIM:614613 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Prelingual sensorineural hearing impairmen... |
ORPHA:436174 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Palmoplantar cutis laxa, Abnormal cornea morphology, Decreased corneal thickness, R... |
OMIM:229200 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Alopecia, Short stature, Brittle hair, Posterior pituitary... |
ORPHA:75389 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Sensorineural hearing impairment, Osteomyelitis, Hand tremor, Foot osteomyelitis, Impaired distal... |
OMIM:162400 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Iris coloboma, Short stature |
ORPHA:88630 |
Kaposiform Lymphangiomatosis |
|
Abnormality of the ischium, Enlarged kidney, Abnormal humerus morphology, Abnormal pelvis bone mo... |
ORPHA:464329 |
Mucolipidosis Iv |
|
Opacification of the corneal stroma, Dystonia, Corneal opacity |
OMIM:252650 |
Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Pes cavus, Action tremor... |
ORPHA:99 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Sensorineural hearing impairment, Eczema, Recurrent otitis media, Abnormal repetitive mannerisms,... |
ORPHA:500159 |
Cardiofaciocutaneous Syndrome 4 |
|
Hyperhidrosis, Curly hair, Cafe-au-lait spot, Decreased response to growth hormone stimulation te... |
OMIM:615280 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
Dent Disease 1 |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Fibular bowing, Nephrolithias... |
OMIM:300009 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Cataract, Increased circulating ferritin concentration, Hyperpig... |
OMIM:606069 |
Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Short stature, Abnormality of retinal pigmentation, Cataract, C... |
ORPHA:585 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, External ear malformation, ... |
ORPHA:1647 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Poor fine motor coordination, Talipes valgus, Bradykinesia, Tibial torsion, Incoordination, Ataxi... |
ORPHA:36387 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Tremor, Dystonia |
OMIM:618049 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
Adult Syndrome |
|
Alopecia, Toenail dysplasia, Sparse scalp hair, Melanocytic nevus, Fingernail dysplasia, Skin ulc... |
ORPHA:978 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Chorea, Inability to walk, Ataxia, Failure to thrive, Hypopigmentation of hair, Generalized dystonia |
ORPHA:70472 |
Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ... |
OMIM:227270 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Hepatitis, Recurrent pneumonia, Otitis media, Failure to thrive seconda... |
ORPHA:169160 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal erosion, Scleritis, Eczema, Abnormality of the nail, Hypoplastic fingernail, Abnormal eye... |
ORPHA:2273 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Small hand, Hypogonadism, Decreased testicular size, Pes cavus, Delayed puberty, Tre... |
OMIM:300354 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Hypopituitarism, Syndac... |
OMIM:603671 |
Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Curly hair, Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmenta... |
OMIM:222470 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Dexamethasone-suppressible primary hyperal... |
ORPHA:251274 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Brittle hair, Onycholysis, Abnor... |
OMIM:614929 |
Prolidase Deficiency |
|
Petechiae, Crusting erythematous dermatitis, Skin ulcer, Eczema, Failure to thrive, Recurrent pne... |
OMIM:170100 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma |
OMIM:133200 |
Autosomal Recessive Stickler Syndrome |
|
Genu valgum, Micrognathia, Epiphyseal dysplasia, Astigmatism, Cataract, Abnormal epiphysis morpho... |
ORPHA:250984 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b... |
OMIM:602111 |
Ichthyosis, X-Linked |
|
Hypohidrosis, Opacification of the corneal stroma, Cryptorchidism, Testicular neoplasm, Palmoplan... |
OMIM:308100 |
Centrifugal Lipodystrophy |
|
Lymphadenitis, Alopecia, Inflammatory abnormality of the skin, Scaling skin, Erythema |
ORPHA:90156 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Erythroderma, White scaling skin, Palmoplantar keratoderma |
OMIM:604777 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... |
ORPHA:897 |
2Q37 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Conductive hearing impairment, Short stature, Supernumerary ni... |
ORPHA:1001 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Choreoathetosis, Ataxia, Tremor, Growth delay, Bilateral sensorineural hearing impairment, Dyston... |
OMIM:619422 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Sensorineural hearing impairment, Decreased body weight, Short stature, Bruxism, Tremor, Low-set ... |
OMIM:618342 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Postnatal growth retardation, Thick eyebrow, Abnormal repetitive mannerisms, Dermal translucency |
ORPHA:529965 |
Johanson-Blizzard Syndrome |
|
Alopecia, Sensorineural hearing impairment, Short stature, Failure to thrive, Hypoproteinemia, Ab... |
ORPHA:2315 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Myoclonus, Clinodactyly, Ataxia, Pes cavus, Syndactyly, Tremor, Hypertonia, Arachnod... |
OMIM:619092 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum ir... |
OMIM:231100 |
Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Small hand, Apraxia, Tremor, Hand apraxia, Involuntary m... |
ORPHA:3095 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Stereotypical body rocking, Recurrent hand flapping, Intrauterine growth retardation, Short stature |
OMIM:309548 |
Kufor-Rakeb Syndrome |
|
Spasticity, Parkinsonism, Rigidity, Torticollis, Paraparesis, Parkinsonism with favorable respons... |
OMIM:606693 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Adrenal hyperplasia |
OMIM:613677 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Hypoplastic sweat glands, Hypohidrosis, Trichorrhexis nodosa, Sparse lateral eyebrow, Orthokerato... |
OMIM:617337 |
Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Ataxia, Pes cavus, Diabetes ... |
ORPHA:96 |
Leigh Syndrome |
|
Chorea, Alopecia, Hyperalaninemia, Macrotia, Sensorineural hearing impairment, Choreoathetosis, F... |
ORPHA:506 |
Fraser-Like Syndrome |
|
Overlapping toe, Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
Zellweger Syndrome |
|
Brushfield spots, Sensorineural hearing impairment, Posterior embryotoxon, Short stature, Primary... |
ORPHA:912 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyebrow, Orthokeratosis, Sclerosing cholangitis, Parakeratosis, Bile duct prolif... |
OMIM:607626 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Metaphyseal irregularity, Proximal tubulopathy, Bulging epiphyses, Tibia... |
OMIM:300554 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Osteomyelitis, Skin rash, Skin ulcer, Eczema, Paronychia, Abnormal hair morphology,... |
ORPHA:2314 |
Ermine Phenotype |
|
Irregular hyperpigmentation, Sensorineural hearing impairment, Short stature, Ocular albinism, Ir... |
ORPHA:999 |
Syndromic Diarrhea |
|
Hypothyroidism, Trichorrhexis nodosa, Cafe-au-lait spot, Generalized hypopigmentation, Brittle ha... |
ORPHA:84064 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Decreased circulating ACTH level, Increased urinary cortisol le... |
OMIM:615954 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Sensorineural hearing impairment, Opacification of the corneal stroma |
OMIM:217400 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract, Cryptorchidism |
OMIM:618815 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Preaxial hand polydactyly, Ambiguous genitalia, Short r... |
OMIM:263520 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hypohidrosis, Sensorineural hearing impairment, Corneal scarring, Hypoesthesia, Impaired proprioc... |
OMIM:616488 |
Dermatoosteolysis, Kirghizian Type |
|
Dystrophic toenail, Skin ulcer, Abnormality of the nail, Keratitis, Dystrophic fingernails, Osteo... |
ORPHA:1657 |
Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Zonular cataract, Premature graying of hair, Short s... |
OMIM:268400 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test... |
ORPHA:293978 |
Ablepharon Macrostomia Syndrome |
|
Atresia of the external auditory canal, Abnormality of skin pigmentation, Corneal erosion, Microt... |
ORPHA:920 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Spastic gait, Delayed puberty, Cataract, Corneal opacity, Cryptorchidism |
ORPHA:496790 |
Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
Aceruloplasminemia |
|
Gait ataxia, Chorea, Blepharospasm, Aceruloplasminemia, Akinesia, Decreased circulating cerulopla... |
ORPHA:48818 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia, Arthritis, Recurrent sinusitis, Recurrent otitis media, Elevated circulating C-reactive... |
OMIM:615559 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Astigmatism, Cataract, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Low-m... |
ORPHA:1652 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Eczema, Growth delay, Erythroderma, Failure to thrive in infancy |
OMIM:619510 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Hyperhidrosis, Hypohidrosis, Corneal erosion, Gait disturbance, Ataxia... |
ORPHA:1764 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Delayed puberty, Dysmetria, Tremor, Hypogonad... |
OMIM:607694 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Profuse pigmented skin lesions, Pruritus, Erythroderma |
ORPHA:280785 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Nail-Patella Syndrome |
|
Patellar dislocation, Absent distal interphalangeal creases, Glomerulonephritis, Microphakia, Dis... |
OMIM:161200 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Sensorineural hearing impairment, Iris hypopigmentation, Anterior synechiae of the anterior chamb... |
ORPHA:3214 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Agel Amyloidosis |
|
Cutis laxa, Corneal ulceration, Keratoconjunctivitis sicca, Lattice corneal dystrophy, Ataxia, Ca... |
ORPHA:85448 |
Microphthalmia With Limb Anomalies |
|
Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M... |
OMIM:206920 |
Hemochromatosis, Type 3 |
|
Arthritis, Elevated transferrin saturation, Purpura, Increased circulating ferritin concentration... |
OMIM:604250 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hypothyroidism, Hyperthyroidism, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous... |
OMIM:269200 |
H Syndrome |
|
Corneal arcus, Hallux valgus, Enlarged kidney, Abnormality of the kidney, Camptodactyly, Hepatosp... |
ORPHA:168569 |
Autosomal Dominant Hypocalcemia |
|
Alopecia, Irregular hyperpigmentation, Hyperphosphatemia, Paresthesia, Writer's cramp, Eczema, Ab... |
ORPHA:428 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... |
OMIM:261640 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism, Protruding ear |
OMIM:152950 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Recurrent hand flapping, Ata... |
ORPHA:98794 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Sensorineural hearing impairment, Inability to walk, Broad eyebrow, Limb dystonia, Abnormal repet... |
ORPHA:457351 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Keutel Syndrome |
|
Alopecia, Short stature, Recurrent sinusitis, Recurrent otitis media, Hearing impairment |
ORPHA:85202 |
Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Gait disturbance, Decreased corneal thickness, Corneal perforation, F... |
OMIM:614170 |
Takayasu Arteritis |
|
Hyperhidrosis, Weight loss, Arthritis, Inflammatory abnormality of the eye, Skin ulcer, Increased... |
ORPHA:3287 |
Alazami Syndrome |
|
Sparse eyebrow, Stereotypical hand wringing, Abnormal repetitive mannerisms, Low-set ears, Postna... |
ORPHA:319671 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Recurrent hand flapping, Gait disturbance, Ataxia, Abnormality of pain sensation, Tremo... |
ORPHA:544254 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movements, Dystonia |
OMIM:619738 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Hypopigmentation of the skin, Short stature, Hypophosphatemic rickets, Corneal opacity,... |
OMIM:163200 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Spasticity, Hemiballismus, Parkinsonism, Truncal ataxia, Rigidity, Myoclonus, Choreo... |
OMIM:618877 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Hyperhidrosis, Arthritis, Palmoplantar hyperkeratosis, Redundant skin, Erythema, Eczematoid derma... |
OMIM:259100 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Generalized hypertrichosis, Bilateral cryptorchidism, Corne... |
ORPHA:2409 |
Juvenile Dermatomyositis |
|
Alopecia, Weight loss, Calcinosis, Skin rash, Arthritis, Skin ulcer, Elevated circulating creatin... |
ORPHA:93672 |
Scleroderma |
|
Alopecia, Irregular hyperpigmentation, Myelitis, Osteomyelitis, Pruritus, Hypohidrosis, Arthritis... |
ORPHA:801 |
Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Hypohidrosis, Aplasia of the ovary, Absent nipple, Breast aplasia, Chro... |
ORPHA:69085 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Chorea, Inability to walk, Stereotypical hand wringing, Oculogyric crisis, Dystonia, Bruxism |
OMIM:614254 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Acute hyperammonemia, Ataxia, Abnormal repetitive mannerisms, Failure to thrive,... |
ORPHA:927 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Conductive hearing impairment, Microtia, Sparse eyelashes, Stenosis of the external aud... |
OMIM:616367 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Achilles tendon contracture, Paraparesis, Hand tremor, Incoordination, Babinski sign, Pes cavus, ... |
OMIM:302800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Alopecia universalis, Secondary hyperparathyroidism, Failure to thrive, Difficu... |
OMIM:277440 |
Mucopolysaccharidosis, Type Vii |
|
Sensorineural hearing impairment, Short stature, Recurrent otitis media, Hirsutism, Corneal opaci... |
OMIM:253220 |
Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia, Primary adrenal insufficiency, Hypopigmented skin patches, Graves disease, Hashimoto th... |
ORPHA:3143 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature, Patchy alopecia, Low-set ears, Corneal dystrophy, Sparse hair, Hea... |
OMIM:617763 |
Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Alopecia totalis, Popliteal pterygium, C... |
ORPHA:1234 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Short stature, Hypophosphatemia, Gait disturbance, Hyperparathyroidism, Hypocalcemia |
ORPHA:93160 |
Osteoporosis-Pseudoglioma Syndrome |
|
Loss of ambulation, Corneal opacity, Short stature, Waddling gait |
ORPHA:2788 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly, Micromelia, Postaxial hand polydactyly |
OMIM:200995 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor, Cr... |
OMIM:618060 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Hyperhidrosis, Aspiration pneumonia, Abnormal repetitive mannerisms, Loss of ambulation, Pigmenta... |
ORPHA:79264 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia of the eyebrow, Short stature, Corneal opacity, Abnormal eyelash morphology, S... |
ORPHA:1794 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Foot polydactyly, Enlarged kidney, Macrodactyly, 2-4 toe syndactyly |
ORPHA:276280 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Proteinuria, Membranoproliferative glomerulonephritis, Macroscopic hematuria |
ORPHA:251004 |
48,Xxyy Syndrome |
|
Decreased testicular size, Ataxia, Abnormal repetitive mannerisms, Tremor, Cryptorchidism, Obesit... |
ORPHA:10 |
Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis, Short stature, Mildly elevated creatine kinase |
OMIM:600705 |
Infantile Myofibromatosis |
|
Irregular hyperpigmentation, Neoplasm of the pancreas, Skin ulcer, Hypercalcemia, Abnormal hair m... |
ORPHA:2591 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
Tbck-Related Intellectual Disability Syndrome |
|
Hypothyroidism, Abnormal circulating lipid concentration, Decreased response to growth hormone st... |
ORPHA:488632 |
Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Malar rash, Small nail, Hypopigmentation of the skin, Short stature, Calcinosis, ... |
ORPHA:2909 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Sparse eyebrow, Macrotia, Thick eyebrow, Recurrent hand flapping |
OMIM:617268 |
Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Parkinsonism, Limb dystonia, Achilles tendon contracture, Clumsiness, B... |
OMIM:617013 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Keratoconjunctivitis sicca, Hepatomegaly, Clubbing |
ORPHA:79128 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Erythroderma |
OMIM:615022 |
Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Megalocornea, Redundant skin, Nail dysplasia, Shallow anterior chamber,... |
OMIM:230740 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Inability to walk, Short stature, Small for gestational age, Anhidrosis, Eczema, Ataxia, Thin nai... |
OMIM:617799 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer, Recurrent sinusitis, Pneumoni... |
ORPHA:217390 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Spasticity, Tremor, Myoclonus |
OMIM:616494 |
Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Iris coloboma, Short hallux, Vesicoureteral re... |
ORPHA:959 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ... |
ORPHA:96334 |
Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer |
ORPHA:409 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Broad-based gait, Coarse hair, Hearing impairment, Bruxism |
OMIM:616351 |
Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Tiger tail banding, Short stature, Brittle hair, Bilateral cryptorchidism, ... |
OMIM:616395 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Short stature, Astigmatism, Coarse hair, Generalized hirsutism, Lo... |
ORPHA:2095 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum, Arthritis, Cystic acne, Elevated circulating C-reactive protein concentrati... |
OMIM:604416 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Alopecia, Corneal scarring, Nail dysplasia, Cataract, Growth delay, Nail dystrophy |
OMIM:226600 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hypopigmentation of hair, Premature graying of hair, Short stature... |
ORPHA:3322 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R... |
OMIM:171480 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Increased circulating cortisol level, Pituitary adenoma, Spotty hyper... |
ORPHA:189439 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor, ... |
ORPHA:1170 |
Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Alopecia, Hyperaldosteronism, Striae distensae, Increased circulating cortisol level, Macronodula... |
ORPHA:189427 |
Mucolipidosis Type Iv |
|
Gait disturbance, Ataxia, Abnormality of retinal pigmentation, Corneal opacity, Palmoplantar kera... |
ORPHA:578 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypothyroidism, Hypohidrosis, Short stature, Cataract, Hypoparathyroidism, Generalized hirsutism,... |
ORPHA:1563 |
Weill-Marchesani Syndrome |
|
Brachydactyly, Cataract, Short thumb, Ectopia lentis |
ORPHA:3449 |
Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Pruritus, Mixed hypo- and hyperpigmentation of the skin, Erythroderma |
ORPHA:79456 |
Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Decreased response to growth hormone stimulation test, Recurrent sinusitis, Recurr... |
OMIM:615577 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Rhizomelia, Short long bone, Micrognathia, Enlarged kidney, Hitchhiker... |
ORPHA:79328 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Patchy alopecia |
OMIM:247100 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Short stature, Small for gestational age, Minimal change glome... |
ORPHA:1830 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Parkinsonism, Abnormal foot morphology, Limb dystonia, Oculogyric crisis, Ata... |
ORPHA:352649 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity |
ORPHA:3077 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Hyperornithinemia, Abnormal hair morphology, Subcapsular cataract, Hearing impairment |
ORPHA:414 |
Macs Syndrome |
|
Alopecia, Sparse eyebrow, Recurrent aphthous stomatitis, Decreased body weight, Cutis laxa, Bronc... |
OMIM:613075 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Skin ulcer, Chronic sinusitis, Ectopia lentis, Chronic otitis media |
OMIM:604571 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Sparse eyebrow, Macrotia, Ataxia, Elevated circulating creatine kinase concentration, Abnormal re... |
ORPHA:496641 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia |
OMIM:233910 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
Biotinidase Deficiency |
|
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Skin rash, Ataxia, Hyperammonemia, Ec... |
ORPHA:79241 |
Cystathioninuria |
|
Tremor, Talipes equinovarus |
ORPHA:212 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Skin ulcer, Hypopituitari... |
ORPHA:231226 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Synophrys, Abnormal repetitive mannerisms, Growth delay, Cryptorchidism, Low-set, posteriorly rot... |
ORPHA:3306 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Cataract, Progressive sensorineural hearing impairment, Ataxia |
ORPHA:3233 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232200 |
Gapo Syndrome |
|
Sparse eyebrow, Alopecia, Low-set ears, Short stature, Hypopigmented skin patches, Growth delay, ... |
ORPHA:2067 |
Rett Syndrome |
|
Inability to walk, Stereotypical hand wringing, Gait disturbance, Abnormal repetitive mannerisms,... |
ORPHA:778 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo... |
ORPHA:1788 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Abnormality of the middle ear ossicles, Synophrys, Hirsutism, Coar... |
ORPHA:581 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse scalp hair, Dermal translucency, Absent eyelashes, Membranoproliferative glomeru... |
OMIM:137940 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hyperhidrosis, Hypoalbuminemia, Seborrheic dermatitis, Acne |
OMIM:614441 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Gait apraxia, Gait disturbance, Ataxia, Dysmetria |
OMIM:600142 |
Pgm3-Cdg |
|
Conductive hearing impairment, Osteomyelitis, Mild neurosensory hearing impairment, Bronchiectasi... |
ORPHA:443811 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia, Short stature, Ataxia |
OMIM:230650 |
Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Hemochromatosis, Type 1 |
|
Alopecia, Testicular atrophy, Increased circulating ferritin concentration, Hyperpigmentation of ... |
OMIM:235200 |
Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Abnormal hair morphology, Sparse hair, Postnatal growth reta... |
OMIM:133540 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... |
OMIM:208540 |
Mixed Connective Tissue Disease |
|
Alopecia, Skin rash, Arthritis, Keratoconjunctivitis sicca, Purpura, Pericarditis, Myositis, Gast... |
ORPHA:809 |
Mucopolysaccharidosis Type 1 |
|
Sensorineural hearing impairment, Paresthesia, Short stature, Hearing impairment, Sinusitis, Corn... |
ORPHA:579 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin rash, Skin ulcer, Abnormality of the nail, Abnormal fingernail morphology, Broad ... |
ORPHA:1334 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P... |
ORPHA:2751 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Abnormality of iron homeostasis, Generalized bronze hyperpigmentation, Weight los... |
ORPHA:465508 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232220 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Hip dislocation, Ataxia, Dy... |
OMIM:614381 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Failure to thrive, Sensorineural hearing impairment, Seborrheic dermatitis |
OMIM:619693 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Petechiae, Iris hypopigmentation, Hypopigmentation of hair, Hyperlipid... |
ORPHA:79477 |
Hemochromatosis, Type 2B |
|
Hyperpigmentation of the skin, Elevated transferrin saturation, Increased circulating ferritin co... |
OMIM:613313 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of the skin, Gait imbalance, Iris hypopigmentation, Hypopigmentation of hair, To... |
ORPHA:98795 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co... |
OMIM:228300 |
Alpha-Mannosidosis, Adult Form |
|
Ataxia, Cataract, Corneal opacity, Mixed hearing impairment, Pneumonia |
ORPHA:309288 |
Ane Syndrome |
|
Alopecia, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, S... |
ORPHA:157954 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity, Inability to walk |
OMIM:166300 |
Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Achilles tendon contracture, Ataxia, Babinski sign, Dysme... |
OMIM:210000 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair, Cryptorchidism, Low-set ears, Intrauterine growth retardation |
ORPHA:228390 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, Tremor, Hypertonia, ... |
OMIM:128100 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Developmental glaucoma, Cutis laxa, Dermal translucency, Fine hair, Prominent ear helix, Cataract... |
OMIM:614438 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Brachydac... |
ORPHA:247768 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial erythema, Hypothyroidism, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:221008 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl... |
OMIM:236680 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Tremor by anatomical site, Parkinsonism, Rigidity, Oculom... |
ORPHA:99750 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Astigmatism, Recurrent hand flapping, Low-set ears |
OMIM:620021 |
Brittle Cornea Syndrome |
|
Keratoglobus, Conductive hearing impairment, Sensorineural hearing impairment, Corneal erosion, A... |
ORPHA:90354 |
Brachyolmia Type 1, Toledo Type |
|
Childhood-onset short-trunk short stature, Opacification of the corneal stroma, Disproportionate ... |
OMIM:271630 |
Relapsing Polychondritis |
|
Conjunctivitis, Alopecia, Recurrent aphthous stomatitis, Sensorineural hearing impairment, Scleri... |
ORPHA:728 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer, Generalized hirsutism, Osteomyelitis |
ORPHA:2218 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Sensorineural hearing impairment, Abnormal Descemet membrane morphology, C... |
ORPHA:293603 |
Oculocerebrorenal Syndrome Of Lowe |
|
Skin ulcer, Buphthalmos, Hypercholesterolemia, Hyponatremia, Lentiglobus, Periodontitis, Arthriti... |
ORPHA:534 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal... |
ORPHA:231580 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Short stature, Macrotia, Abnormal repetitive mannerisms |
ORPHA:391307 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Small nail, Cafe-au-lait spot, Macrotia, Short stature, Absent eyelashes, Absent eyebro... |
ORPHA:166035 |
Livedoid Vasculopathy |
|
Macular purpura, Abnormal circulating lipid concentration, Hyperpigmented streaks, Paresthesia, S... |
ORPHA:542643 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Abnormal circulating lipid concentration, Sensorineural hearing impairment, Dysdi... |
OMIM:616541 |
Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Nail dysplasia, Iris coloboma, Anteverted ears, Cupped ear, Sparse hair, Posterio... |
OMIM:181270 |
Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis, Los... |
ORPHA:163934 |
Ifap Syndrome 2 |
|
Angular cheilitis, Keratoconjunctivitis sicca, Perioral erythema, Cataract, Keratitis, Sparse hai... |
OMIM:619016 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the patella, Aniridia |
ORPHA:1069 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse body hair, Conjunctivitis, Atresia of the external auditory canal, Conductive hearing impa... |
OMIM:106260 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Arthritis, Skin ulcer, Myositis, Pustule, Increased inflammatory response, Acne |
ORPHA:69126 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Synophrys, Recurrent hand flapping, Bruxism, Truncal obesity |
OMIM:613192 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Macrotia, Anterior pituitary hypoplasia, Short stature, Small for gestational age, Gait disturban... |
ORPHA:464306 |
8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Eczema, Cataract, Corneal opacity, Cryptorchidism, Low-set ears, Hearing i... |
ORPHA:284160 |
Reynolds Syndrome |
|
Irregular hyperpigmentation, Pruritus, Skin rash, Arthritis, Skin ulcer, Keratoconjunctivitis sic... |
ORPHA:779 |
Cenani-Lenz Syndrome |
|
Crossed fused renal ectopia, Foot oligodactyly, Finger syndactyly, Toe syndactyly, Hypoplasia of ... |
ORPHA:3258 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
High anterior hairline, Recurrent hand flapping |
OMIM:618859 |
Bilateral Generalized Polymicrogyria |
|
Short stature, Oculogyric crisis, Abnormal repetitive mannerisms, Growth delay, Dystonia |
ORPHA:208447 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Small nail, Stereotypical body rocking, Short stature, Microtia, Periorbital hyperpigmentation, R... |
ORPHA:261323 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Weight loss, Fine hair, Hypopigmentation of hair, Generalized hirsut... |
ORPHA:2221 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment, Ataxia |
OMIM:172850 |
Spinocerebellar Ataxia 42 |
|
Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Ataxia, Babinski sign, Tremor |
OMIM:616795 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Ataxia, Abnormal repetitive mannerisms, Astigmatism, Unsteady gait, Low-set... |
ORPHA:457279 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
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Bicarbonate-wasting renal tubular acidosis, Impaired renal tubular reabsorption of bicarbonate, P... |
OMIM:604278 |
Helsmoortel-Van Der Aa Syndrome |
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Polydactyly, Genu valgum, Tapered finger, Small hand, Enuresis nocturna, Recurrent urinary tract ... |
OMIM:615873 |
9P13 Microdeletion Syndrome |
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Hypoplastic toenails, Cafe-au-lait spot, Short stature, Hand tremor, Recurrent otitis media, Abno... |
ORPHA:324313 |
Wiedemann-Steiner Syndrome |
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Decreased response to growth hormone stimulation test, Rhizomelia, Short stature, Synophrys, Long... |
ORPHA:319182 |
Fusariosis |
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Maculopapular exanthema, Osteomyelitis, Bronchiectasis, Arthritis, Fasciitis, Skin ulcer, Otitis ... |
ORPHA:228119 |
7Q11.23 Microduplication Syndrome |
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Horizontal eyebrow, Cafe-au-lait spot, Short stature, Sparse anterior scalp hair, Long eyelashes,... |
ORPHA:96121 |
Bardet-Biedl Syndrome 1 |
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Broad foot, Hypogonadism, Foot polydactyly, Decreased testicular size, Poor coordination, Abnorma... |
OMIM:209900 |
Monosomy 22 |
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Hyperhidrosis, Synophrys, Aplasia of the thymus, Low-set, posteriorly rotated ears, Sparse hair, ... |
ORPHA:96123 |
Ermine Phenotype |
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Sensorineural hearing impairment, Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentat... |
OMIM:227010 |
Kniest Dysplasia |
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Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Rhizomelia, Hip contracture,... |
OMIM:156550 |
Developmental And Epileptic Encephalopathy 67 |
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Gait disturbance, Recurrent hand flapping, Athetosis, Dystonia |
OMIM:618141 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
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Tics, Ataxia, Failure to thrive, Tongue thrusting, Stereotypical body rocking, Unsteady gait, Thi... |
OMIM:617865 |
Hemochromatosis, Type 2A |
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Arthritis, Increased circulating ferritin concentration, Increased serum iron, Hyperpigmentation ... |
OMIM:602390 |
Isolated Optic Nerve Hypoplasia/Aplasia |
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Aplasia/Hypoplasia of the iris, Corneal opacity, Growth delay |
ORPHA:137902 |
Hypermanganesemia With Dystonia 1 |
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Poor fine motor coordination, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor functio... |
OMIM:613280 |
Acro-Renal-Mandibular Syndrome |
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Finger syndactyly, Uterus didelphys, Bicornuate uterus, Hypoplasia of the radius, Micrognathia, H... |
ORPHA:958 |
Systemic Sclerosis |
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Alopecia, Irregular hyperpigmentation, Hypohidrosis, Osteomyelitis, Nail bed telangiectasia, Prur... |
ORPHA:90291 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
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Short stature, Decreased testicular size, Multiple cafe-au-lait spots, Patchy alopecia, Cryptorch... |
ORPHA:85279 |
Thrombocytopenia-Absent Radius Syndrome |
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Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Mandibuloacral Dysplasia |
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Alopecia, Abnormality of skin pigmentation, Increased circulating free fatty acid level, Hypoplas... |
ORPHA:2457 |
Microphthalmia With Brain And Digit Anomalies |
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Sensorineural hearing impairment, Microcornea, Nail dysplasia, Iris coloboma, Cataract, Cryptorch... |
ORPHA:139471 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Alopecia, Small nail, Short stature, Orthokeratosis, Mild intrauterine growth retardation, Elevat... |
OMIM:308050 |
Parasomnia, Sleep Bruxism Type |
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Bruxism |
OMIM:606840 |
Polyarteritis Nodosa |
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Weight loss, Skin ulcer, Pericarditis, Elevated circulating C-reactive protein concentration, Ery... |
ORPHA:767 |
Spinocerebellar Ataxia Type 27 |
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Gait ataxia, Truncal ataxia, Hand tremor, Limb ataxia, Pes cavus, Tremor |
ORPHA:98764 |
Tetraamelia Syndrome 1 |
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Asplenia, Urethral atresia, Adrenal gland agenesis, Micrognathia, Absent external genitalia, Tetr... |
OMIM:273395 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Lens subluxation, Cataract, Microphakia, Arachnodactyly |
ORPHA:171844 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Pes cavus, Tremor, ... |
OMIM:208920 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Bartsocas-Papas Syndrome 2 |
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Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Corneal opacity, Low-set ears, Ov... |
OMIM:619339 |
Keratitis, Hereditary |
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Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Optic Atrophy-Intellectual Disability Syndrome |
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Short stature, Repetitive compulsive behavior, Compulsive behaviors, Keratoconus, Hearing impairm... |
ORPHA:401777 |
Oculocerebrocutaneous Syndrome |
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Alopecia, Cryptorchidism |
OMIM:164180 |
Leishmaniasis |
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Rhinitis, Weight loss, Skin ulcer, Pallor, Hypoalbuminemia |
ORPHA:507 |
22Q11.2 Deletion Syndrome |
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Hypothyroidism, Conductive hearing impairment, Hypoplasia of the thymus, Hypoparathyroidism, Hear... |
ORPHA:567 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
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Sparse lateral eyebrow, Tics, Recurrent hand flapping, Recurrent otitis media, Failure to thrive,... |
OMIM:617788 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Anterior lenticonus, Le... |
OMIM:308940 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
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Chorea, Macrotia, Decreased body weight, Inability to walk, Repetitive compulsive behavior, Ataxi... |
OMIM:300260 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Deep dermatophytosis, Decreased serum iron, Chronic oral candidiasis |
OMIM:212050 |
Cardiofaciocutaneous Syndrome 1 |
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Hyperhidrosis, Curly hair, Low-set ears, Short stature, Absent eyelashes, Multiple lentigines, La... |
OMIM:115150 |
Dentatorubral Pallidoluysian Atrophy |
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Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
Saul-Wilson Syndrome |
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Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces... |
OMIM:618150 |
Microscopic Polyangiitis |
|
Paresthesia, Skin rash, Arthritis, Skin ulcer, Uveitis, Pericarditis, Sinusitis, Erythema, Episcl... |
ORPHA:727 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Aplasia of the ovary, Sparse facial hair, ... |
ORPHA:2232 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Gait ataxia, Synophrys, Abnormal repetitive mannerisms, Compulsive behaviors, Failure to thrive, ... |
ORPHA:476126 |
Hurler-Scheie Syndrome |
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Growth delay, Hirsutism, Corneal opacity, Short stature |
OMIM:607015 |
Walker-Warburg Syndrome |
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Abnormal circulating creatine kinase concentration, Protruding ear, Microcornea, Iris coloboma, C... |
ORPHA:899 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Keratoendotheliitis Fugax Hereditaria |
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Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Eczema, Parakeratosis, Failure to thr... |
ORPHA:83617 |
Phocomelia, Schinzel Type |
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Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
Idiopathic Hypereosinophilic Syndrome |
|
Somatic sensory dysfunction, Erythroderma, Paresthesia, Inflammatory abnormality of the skin, Art... |
ORPHA:3260 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Leukonychia, Skin ulcer, Abnormality of retinal pigmentation, Erysipelas, Scaling skin, Cataract,... |
ORPHA:2526 |
Dyskeratosis Congenita, X-Linked |
|
Conjunctivitis, Alopecia, Hyperhidrosis, Premature graying of hair, Short stature, Split nail, De... |
OMIM:305000 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
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Low-set ears, Bruxism, Tremor, Inability to walk |
OMIM:618718 |
Atelosteogenesis, Type I |
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Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Small earlobe, Small nail, Cafe-au-lait spot, Synophrys, Thin eyebrow, Failure to thrive, Corneal... |
ORPHA:364577 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Ataxia, Testicula... |
OMIM:222300 |
Lamb-Shaffer Syndrome |
|
Abnormal repetitive mannerisms, Mild postnatal growth retardation, Ataxia |
ORPHA:530983 |
Waardenburg Syndrome, Type 2E |
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Cafe-au-lait spot, Sensorineural hearing impairment, Premature graying of hair, Ocular albinism, ... |
OMIM:611584 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Alopecia, Short stature, Testicular adrenal rest tumor, Decreased circulating renin level, Hypoka... |
ORPHA:90795 |
Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Cafe-au-lait spot, Tip-toe gait, Short stature... |
ORPHA:293939 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema |
ORPHA:31112 |
Parkinson Disease 21 |
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Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Sparse lateral eyebrow, Yellow nails, Onycholysis, Ridged nail, Nail dystrophy |
OMIM:614564 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal repetitive mannerisms, Congenital sensorineural hearing impairment, Abnormal... |
ORPHA:79155 |
Necrobiosis Lipoidica |
|
Skin ulcer, Erythema, Inflammatory abnormality of the skin |
ORPHA:542592 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Iris coloboma, Vesicoureteral re... |
OMIM:607323 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Adams-Oliver Syndrome |
|
Alopecia, Absent fingernail, Hypoplastic fingernail, Failure to thrive, Cataract, Aplastic/hypopl... |
ORPHA:974 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Ovotestis, Hypospadias, Sex reversal, Adrenal gland agenesis |
OMIM:611812 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Developmental glaucoma, Sensorineural hearing impairment, Paresthesia, Inability to walk, Tip-toe... |
ORPHA:99956 |
Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Pustule, Multiple cafe-au-lait spots, Recurrent skin infections, Sebo... |
ORPHA:302 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Uterus didelphys, Bicornuate uterus, Toe syndactyly, Micrognathia, Foot polyd... |
OMIM:200980 |
Pachyonychia Congenita 2 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Angular cheilitis, Folliculitis, Palmoplantar hyperh... |
OMIM:167210 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Abnormality of the ovary, Abnormality of the urethra |
ORPHA:2795 |
Wilson Disease |
|
Weight loss, Hepatitis, Arthritis, Failure to thrive, Acute hepatitis, Kayser-Fleischer ring, Dif... |
ORPHA:905 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Cataract, Neurogenic bladder |
OMIM:617370 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial erythema, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Short stature, ... |
ORPHA:221016 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Proteinuria, Urinary gly... |
ORPHA:505248 |
Mogs-Cdg |
|
Alopecia, Hypothyroidism, Sensorineural hearing impairment, Fair hair, Absent brainstem auditory ... |
ORPHA:79330 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Chorea, Macrotia, Cafe-au-lait spot, Prominent crus of helix, Inability to walk, Stereotypical ha... |
OMIM:617804 |
Beta-Thalassemia Major |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Skin ulcer, Hypopituitari... |
ORPHA:231214 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Bilateral cryptorchidism, Repetitive compulsive behavior, Ataxia, Elevated circul... |
ORPHA:66634 |
3Mc Syndrome 3 |
|
Short stature, Auricular pit, Corneal opacity, Abnormal pinna morphology, Growth delay, Cryptorch... |
OMIM:248340 |
Insulin-Resistance Syndrome Type B |
|
Alopecia, Abnormal circulating lipid concentration, Decreased body weight, Enlarged polycystic ov... |
ORPHA:2298 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Generalized hypopigmentation, Ocular albinism, Short stature, Iris hypopigmentation, Ataxia, Cata... |
ORPHA:2720 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Astigmatism, Obsessi... |
ORPHA:168491 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia |
OMIM:242510 |
Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebell... |
ORPHA:98773 |
Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Hepatomegaly, Nephrocalcinosis, Renal insufficiency, Renal... |
OMIM:276700 |
Optic Atrophy 11 |
|
Gait apraxia, Macrotia, Short stature, Ataxia, Mildly elevated creatine kinase, Dysmetria, Stereo... |
OMIM:617302 |
5Q14.3 Microdeletion Syndrome |
|
Thick eyebrow, Abnormal repetitive mannerisms |
ORPHA:228384 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Hypoplastic toenails, Macrotia, Sensorin... |
ORPHA:544488 |
Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:601812 |
Autoimmune Hypoparathyroidism |
|
Conjunctivitis, Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hyperphosphatemia, Paresthesi... |
ORPHA:36913 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration, St... |
ORPHA:521411 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Absent fingernail, Alopecia universalis, Alopecia totalis, Acantholysis, Neonatal death, Anonychia |
OMIM:609638 |
Hypotrichosis 8 |
|
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... |
OMIM:278150 |
Koolen-De Vries Syndrome |
|
Hypothyroidism, Short stature, Hypopigmentation of hair, Cataract, Cryptorchidism, Overfolded hel... |
ORPHA:96169 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Alopecia, Aplasia/Hypoplasia of the eyebrow, Decreased response to growth hormone... |
ORPHA:3464 |
Focal Dermal Hypoplasia |
|
Alopecia, Abnormality of skin pigmentation, Hypoplasia of the iris, Abnormality of the nail, Ecto... |
ORPHA:2092 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Cockayne Syndrome Type 1 |
|
Conjunctivitis, Hypohidrosis, Macrotia, Absent brainstem auditory responses, Gait disturbance, Uv... |
ORPHA:90321 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer, Secondary hyperparathyroidism, Hyperphosphatemia |
ORPHA:280062 |
Cockayne Syndrome A |
|
Pigmentary retinopathy, Dry hair, Abnormality of skin pigmentation, Sensorineural hearing impairm... |
OMIM:216400 |
Oculocutaneous Albinism Type 1 |
|
Generalized hypopigmentation of hair, Generalized hypopigmentation, Iris transillumination defect... |
ORPHA:352731 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Hurler Syndrome |
|
Short stature, Recurrent otitis media, Hirsutism, Corneal opacity, Opacification of the corneal s... |
OMIM:607014 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Skin ulcer, Pallor, Hypop... |
ORPHA:231222 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
Oculocutaneous Albinism Type 4 |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... |
ORPHA:79435 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse body hair, Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Absent eyebrow |
ORPHA:69735 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Short stature, Calcinosis, Hyperpigmentation of the skin, Delayed puberty, Hyperlipidem... |
ORPHA:90154 |
Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Collectionism, Abnormal repetitive mannerisms |
ORPHA:275864 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Short stature, Microtia, Recurrent hand flapping, Bruxism, Long eyelashes, Ataxia, Cupped ear, As... |
OMIM:156200 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Aspiration pneumonia, Postural tremor, Short stature, Truncal ataxia, Ataxia, Truncal obesity, He... |
OMIM:301072 |
Neurofibromatosis Type 1 |
|
Hearing abnormality, Melanocytic nevus, Paresthesia, Short stature, Generalized hyperpigmentation... |
ORPHA:636 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Cafe-au-lait spot, Elevated transferrin saturation, Pallor, Increased circulating ferritin concen... |
OMIM:615234 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hypoplastic fingernail, Alopecia, Skin vesicle, Hyperconvex fingernails |
ORPHA:257 |
Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Small nail, Sparse lateral eyebrow, Pili torti, Trichorrhexis nodosa, Recurrent otitis ... |
OMIM:261990 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pedal edema, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ... |
ORPHA:449395 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Abnormality of skin pigmentation, Conductive hearing impairment, Pre... |
ORPHA:3440 |
Hurler Syndrome |
|
Abnormality of skin pigmentation, Rhinitis, Short stature, Corneal opacity, Growth delay, Thick e... |
ORPHA:93473 |
Chime Syndrome |
|
Skin ulcer, Fine hair, Abnormality of the outer ear, Corneal opacity, Erythema, Hyperkeratosis, S... |
ORPHA:3474 |
Aceruloplasminemia |
|
Chorea, Blepharospasm, Aceruloplasminemia, Torticollis, Decreased serum iron, Ataxia, Increased c... |
OMIM:604290 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism, Short stature |
OMIM:270200 |
Hereditary Spherocytosis |
|
Hyperbilirubinemia, Skin ulcer, Ataxia, Pallor, Gout, Growth delay, Maculopapular exanthema, Chol... |
ORPHA:822 |
Mosaic Trisomy 8 |
|
Abnormal antihelix morphology, Hypopigmentation of the skin, Macrotia, Short stature, Decreased t... |
ORPHA:96061 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central hypothyroidism, Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:98793 |
Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Anterior pituitary hypoplasia, Patellar hypoplasia, Preaxial foo... |
ORPHA:1827 |
Angelman Syndrome |
|
Hypopigmentation of the skin, Inability to walk, Fair hair, Iris hypopigmentation, Recurrent hand... |
ORPHA:72 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Cafe-au-lait spot, Adrenal insufficiency, Decreased transferrin saturation, Pallo... |
ORPHA:300298 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
Dystonia, Juvenile-Onset |
|
Sensorineural hearing impairment, Small for gestational age, Oculogyric crisis, Leg dystonia, Cat... |
OMIM:607371 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Clitoral hypertrophy, Micrognathia, Ivory epiphyses, Hip dislocation, Abnormal ... |
OMIM:210600 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central hypothyroidism, Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:177904 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Alopecia, Sparse scalp hair, Absent eyelashes, Hydrocele testis, Abnormality of the nail, Abnorma... |
OMIM:607823 |
Oculocutaneous Albinism |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... |
ORPHA:55 |
Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Hypohidrosis, Bilateral cryptorchidism, Fine hair, Alopecia totalis, Intrauterine... |
OMIM:613451 |
Congenital Disorder Of Deglycosylation 1 |
|
Chorea, Hyperhidrosis, Hyperalaninemia, Decreased body weight, Anhidrosis, Elevated circulating a... |
OMIM:615273 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Premature graying of hair, Interstitial pneumonitis, Ataxia, Nail pits, Ridged nail, Re... |
OMIM:127550 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central hypothyroidism, Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:177901 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Recurrent hand flapping, Overweight, Posteriorly rotated ears |
OMIM:615032 |
Functioning Gonadotropic Adenoma |
|
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Short stature, Recurrent hand flapping, Gait disturbance, Ataxia, Failure to thrive |
OMIM:300986 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Irida Syndrome |
|
Hyperkeratosis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Blau Syndrome |
|
Erythema nodosum, Iritis, Arthritis, Skin ulcer, Synovitis, Eczema, Uveitis, Abnormality of the e... |
OMIM:186580 |
Kleefstra Syndrome |
|
Thickened helices, Short stature, Synophrys, Supernumerary nipple, Abnormal repetitive mannerisms... |
ORPHA:261494 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:135100 |
Lethal Acantholytic Erosive Disorder |
|
Absent hair, Absent eyelashes, Absent toenail, Absent fingernail, Absent eyebrow, Abnormal pinna ... |
ORPHA:158687 |
Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Macrotia, Periodontitis, Keratoconjunctivitis sicca, Redundant skin, Astigmatism, Impai... |
ORPHA:536532 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Short stature, Truncal ataxia, Recurrent hand flapping, Limb ataxia, Broad-based gait, Low-set ea... |
OMIM:617101 |
Atypical Werner Syndrome |
|
Decreased body weight, Patchy hypo- and hyperpigmentation, Premature graying of hair, Abnormal te... |
ORPHA:79474 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cataract, Cardiomegaly |
OMIM:261740 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd... |
OMIM:208500 |
Hajdu-Cheney Syndrome |
|
Periodontitis, Short stature, Synophrys, Skin ulcer, Abnormal fingernail morphology, Failure to t... |
ORPHA:955 |
Adult Polyglucosan Body Disease |
|
Gait disturbance, Skin ulcer, Distal sensory impairment, Ataxia |
ORPHA:206583 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary |
OMIM:241090 |
Hallermann-Streiff Syndrome |
|
Sparse body hair, Alopecia, Sparse eyebrow, Hypothyroidism, Uveitis, Developmental cataract, Cryp... |
ORPHA:2108 |
Insulinoma |
|
Hyperinsulinemia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Hyperinsuli... |
ORPHA:97279 |
Marshall Syndrome |
|
Coxa valga, Hypoplastic ilia, Lens luxation, Micrognathia, Radial bowing, Irregular distal femora... |
OMIM:154780 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma |
OMIM:610163 |
Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, Synophrys, Hirsutism, Action tremor, Recurrent skin infections, Slender build, Sp... |
ORPHA:3455 |
Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Malar rash, Discoid lupus rash, Skin rash, Arthritis, Nephritis, Myositis |
ORPHA:93552 |
Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract, Low-set ears, Abnormal pinna morphology |
OMIM:601811 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Mottled pigmentation, Alopecia, Brittle hair, Growth delay, Hyperlipidemia, Sparse hair |
OMIM:608612 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma, Polycystic ovaries, Short stature |
ORPHA:1643 |
Schimke Immunoosseous Dysplasia |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Bilate... |
OMIM:242900 |
Bartsocas-Papas Syndrome 1 |
|
Alopecia, Sparse scalp hair, Small nail, Microtia, Absent eyelashes, Corneal ulceration, Bilatera... |
OMIM:263650 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Hypoplasia of the thymus, Elevated circulating long chain fatty acid concentrat... |
OMIM:214110 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Sensorineural hearing impairment, Spastic ataxia, Inability to walk, Torticollis, Abnormal repeti... |
ORPHA:300570 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Sensorineural hearing impairment, Posterior embryotoxon, Frontal upsweep of hair, Ocular anterior... |
OMIM:612582 |
Multiple Sulfatase Deficiency |
|
Hearing impairment, Corneal opacity, Ataxia, Short stature |
OMIM:272200 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Dysmetria, Tremor, Ataxia |
OMIM:619405 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Skin ulcer, Hypopigmented skin patches |
ORPHA:220402 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Hypohidrosis, Sensorineural hearing impairment, Short s... |
ORPHA:324 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Abnormality of skin pigmentation, Short stature, Decreased testicular size, Failure to ... |
OMIM:620040 |
Orofaciodigital Syndrome X |
|
Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia |
OMIM:165590 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Fair hair, Pineal cyst, Eczema, Primary adrenal insufficiency, Vitiligo, Testicul... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Fair hair, Pineal cyst, Eczema, Primary adrenal insufficiency, Vitiligo, Testicul... |
ORPHA:363958 |
Gracile Syndrome |
|
Decreased transferrin saturation, Hearing impairment, Increased circulating ferritin concentratio... |
ORPHA:53693 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad foot, 2-3 finger syndactyly, Flared iliac wing, Duplication of renal pelvis, Hepatomegaly, ... |
OMIM:312870 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypopigmentation of the skin, Giant melanosomes in melanocyt... |
OMIM:214500 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Alopecia, Brittle hair, Ataxia, Hearing impairment, Chronic otitis media, Tremo... |
ORPHA:2750 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Short stature, Stereotypical hand wringing, Growth delay, Abnormal pinna morphology, Low-set ears... |
OMIM:612337 |
Fibrochondrogenesis 1 |
|
Megalocornea, Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Sma... |
OMIM:228520 |
Adult Syndrome |
|
Conjunctivitis, Sparse scalp hair, Fair hair, Sparse axillary hair, Absent nipple, Eczema, Nail p... |
OMIM:103285 |
Developmental And Epileptic Encephalopathy 110 |
|
Chorea, Macrotia, Pain insensitivity, Low-set ears, Bruxism |
OMIM:620149 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Lens luxation, Stage 5 chronic kidney diseas... |
OMIM:120330 |
Neutrophilic Dermatosis, Acute Febrile |
|
Pyoderma gangrenosum, Acne inversa, Cystic acne, Elevated circulating C-reactive protein concentr... |
OMIM:608068 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... |
OMIM:203300 |
Colchicine Poisoning |
|
Alopecia, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalc... |
ORPHA:31824 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Corneal opacity, Opacification of the corneal stroma, Disproportionate short-trunk short ... |
OMIM:253010 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Dysdi... |
OMIM:208900 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Dyggve-Melchior-Clausen Disease |
|
Rhizomelia, Inability to walk, Failure to thrive, Severe short stature, Difficulty walking, Corne... |
ORPHA:239 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased response to growth hormone... |
ORPHA:177907 |
Bainbridge-Ropers Syndrome |
|
Inability to walk, Synophrys, Thin eyebrow, Recurrent hand flapping, Long eyelashes, Supernumerar... |
OMIM:615485 |
Phelan-Mcdermid Syndrome |
|
Toenail dysplasia, Hypohidrosis, Hypoplastic toenails, Macrotia, Bruxism, Long eyelashes, Broad-b... |
OMIM:606232 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Choreoathetosis, Abnormal repeti... |
ORPHA:261197 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hyperalaninemia, Small for gestational age, Ataxia, Failure to thrive, Cataract, Hyperammonemia, ... |
OMIM:614052 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Developmental And Epileptic Encephalopathy 87 |
|
Horizontal eyebrow, Recurrent hand flapping |
OMIM:618916 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Micrognathia, Enlarged kidney, Polycysti... |
ORPHA:731 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Alopecia, Autoimmune hypoparathyroidism, Atrophic gastritis, Iridoc... |
ORPHA:227982 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Synophrys, Broad eyebrow, Keratoconjunctivitis sicca, Long eyelashes, Buphthalmos... |
ORPHA:495875 |
Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Pterygium, Ulnar bowing, Sho... |
OMIM:211350 |
Immunodeficiency 7 |
|
Chronic oral candidiasis, Recurrent otitis media, Failure to thrive, Patchy alopecia, Vitiligo |
OMIM:615387 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Alopecia, Atrophic gastritis, Iridocyclitis, Hepatitis, Rheumatoid ... |
ORPHA:227990 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... |
ORPHA:79431 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central hypothyroidism, Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:98754 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Hemidystonia, Torticollis, Recurrent hand flapping, Recurrent otitis media, Astigmatism, Tremor, ... |
OMIM:619680 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Cryptorchidism, Scler... |
OMIM:613001 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Sensorineural hearing impairment, Elevated circulating thyroid-stimulating hormone conc... |
OMIM:241080 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer, Abnormality of retinal pigmentation |
ORPHA:1117 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypohidrosis, Abnormal eyebrow morphology, Sensorineural hearing impairment, Premature graying of... |
ORPHA:163746 |
Ogden Syndrome |
|
Metatarsus valgus, Micrognathia, Enlarged kidney, Polycystic kidney dysplasia, Clinodactyly of th... |
OMIM:300855 |
White-Sutton Syndrome |
|
Sensorineural hearing impairment, Short stature, Abnormal repetitive mannerisms, Compulsive behav... |
ORPHA:468678 |
Tangier Disease |
|
Dry skin, Impaired temperature sensation, Corneal opacity, Hypocholesterolemia, Hypertriglyceride... |
ORPHA:31150 |
Kallmann Syndrome |
|
Anterior hypopituitarism, Decreased testicular size, Hypothalamic gonadotropin-releasing hormone ... |
ORPHA:478 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Truncal ataxia, Broad eyebrow, Sparse eyelashes, Pneumonia, Posteriorly... |
OMIM:264090 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Unsteady gait, Recurrent hand flapping, Blue irides |
OMIM:615516 |
Wagro Syndrome |
|
Decreased testicular size, Cataract, Corneal opacity, Low-set ears, Obesity, Aniridia |
OMIM:612469 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Vici Syndrome |
|
Hypopigmentation of the skin, Sensorineural hearing impairment, Ocular albinism, Albinism, Chroni... |
OMIM:242840 |
Galloway-Mowat Syndrome 1 |
|
Hypopigmentation of the skin, Small nail, Macrotia, Short stature, Small for gestational age, Hyp... |
OMIM:251300 |
Erythroderma Desquamativum |
|
Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Small nail, Sensorineural hearing impairment, Elevated circulating phytanic aci... |
OMIM:614866 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Short stature, Gait disturbance, Peripheral opacification of the cornea, Hirsutism, Corneal opaci... |
OMIM:259600 |
Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... |
ORPHA:79432 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hypopigmentation of the skin, Somatic sensory dysfunction, P... |
ORPHA:167 |
Norrie Disease |
|
Sensorineural hearing impairment, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anteri... |
OMIM:310600 |
X-Linked Intellectual Disability, Cabezas Type |
|
Camptodactyly of finger, Short foot, Small hand, Hypogonadism, Toe syndactyly, Decreased testicul... |
ORPHA:85293 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Rheumatoid arthritis, Anterior chamber synechiae, Uveitis, Failure to thrive, Cat... |
ORPHA:85410 |
22Q11.2 Duplication Syndrome |
|
Abnormal repetitive mannerisms, Compulsive behaviors, Growth delay, Anterior creases of earlobe, ... |
ORPHA:1727 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Short stature, Hypopigmentation of hair, Growth ... |
OMIM:618541 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Macrotia, Decreased body weight, Shuffling gait, Short stature, Decreased testicular size, Failur... |
OMIM:300534 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Birth length less than 3rd percentile, Small for gestational age, Posterior pituitary hypoplasia,... |
ORPHA:464311 |
Nestor-Guillermo Progeria Syndrome |
|
Alopecia, Sparse eyebrow, Sparse scalp hair, Short stature, Spotty hyperpigmentation, Failure to ... |
OMIM:614008 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hepatomegaly, Proteinuria, Nephrocalcinosis, Tub... |
ORPHA:79259 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Skin ulcer, Purpura |
ORPHA:743 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Abnormal pyramidal sign, Blepharospasm, Parkinsonism, Parkinsonism with favorable response to dop... |
ORPHA:240071 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Mottled pigmentation, Alopecia, Sparse scalp hair, Calcinosis, Onychogryposis, Growth delay, Hype... |
OMIM:248370 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Short long bone, Absence of the sacrum, Enlarged kidney, Renal agenesis, Congenital... |
OMIM:306955 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Inability to walk, Cachexia, Keratoconjunctivitis sicca, Action trem... |
ORPHA:191 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Skin rash |
OMIM:253270 |
Rett Syndrome |
|
Gait ataxia, Gait apraxia, Short stature, Stereotypical hand wringing, Truncal ataxia, Cachexia, ... |
OMIM:312750 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Cleft earlobe, Abnormality of skin pigmentation, Posterior embryotoxon, Abnormal testis morpholog... |
ORPHA:2556 |
Wilson Disease |
|
Limb dystonia, Decreased circulating ceruloplasmin concentration, Increased circulating copper co... |
OMIM:277900 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Chronic active hepatitis, Keratoconjunctivitis sicca, Skin ulcer, My... |
ORPHA:289390 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Malar rash, Enlargement of parotid gland, Weight loss, Skin rash, Ataxia, Pustule, Elev... |
ORPHA:50918 |
Occipital Horn Syndrome |
|
Genu valgum, Humerus varus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Apla... |
ORPHA:198 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Developmental glaucoma, Hypoplastic frontal sinuses, Micrognathia, Flare... |
ORPHA:90652 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bruxism, Growth delay, Inability to walk, Large earlobe |
OMIM:615716 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Wrinkly Skin Syndrome |
|
Cutis laxa, Short stature, Excessive skin wrinkling on dorsum of hands and fingers, Failure to th... |
ORPHA:2834 |
Porphyria, Congenital Erythropoietic |
|
Conjunctivitis, Alopecia, Hypopigmentation of the skin, Short stature, Corneal scarring, Absent e... |
OMIM:263700 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Hyperhidrosis, Seborrheic dermatitis, Acne |
OMIM:167100 |
Cousin Syndrome |
|
Hypoplastic iliac wing, 2-3 toe syndactyly, Hydronephrosis, Hypoplastic pubic bone, Rhizomelia, H... |
OMIM:260660 |
Pyoderma Gangrenosum |
|
Skin vesicle, Rheumatoid arthritis, Skin ulcer, Myositis, Inflammation of the large intestine, Pu... |
ORPHA:48104 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypothyroidism, Macrotia, Hyperthyroidism, Recurrent hand flapping, Recurrent otitis media, Abnor... |
ORPHA:449291 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Erythema nodosum, Skin rash, Arthritis, Skin ulcer, Purpura, Eczema, Recurrent sinusitis, Recurre... |
OMIM:615688 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Hyperkeratosis, Decreased circulating copper c... |
ORPHA:171851 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Overfolded helix, Abnormality of skin pigmentation, Small nail, Large for gestational age, Elevat... |
OMIM:300868 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Decreased body weight, Melanocytic nevus, Synophrys, Broad eyebrow, Repetitive compulsive behavio... |
OMIM:619475 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular... |
ORPHA:3144 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Pyoderma, Gastrointestinal inflammation, Abnormality of the nail, Abnormal blood ion co... |
ORPHA:79404 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy... |
OMIM:276820 |
Chops Syndrome |
|
Curly hair, Aspiration pneumonia, Thickened helices, Short stature, Synophrys, Long eyelashes, Ob... |
OMIM:616368 |
Aromatase Deficiency |
|
Ovarian cyst, Female pseudohermaphroditism, Hypergonadotropic hypogonadism |
OMIM:613546 |
Alpha-Mannosidosis, Infantile Form |
|
Sensorineural hearing impairment, Ataxia, Astigmatism, Cataract, Otitis media, Corneal opacity, M... |
ORPHA:309282 |
Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Abnormality of skin pigmentation, Periodontitis, Esophagitis, Inflammation of the... |
ORPHA:2908 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia, ... |
OMIM:219800 |
Digeorge Syndrome |
|
Hypothyroidism, Ovarian cyst, Hypoplasia of the thymus, Posterior embryotoxon, Short stature, Rec... |
OMIM:188400 |
Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Precocious puberty, Ankle clonus, Qua... |
ORPHA:845 |
Pseudo-Torch Syndrome 1 |
|
Petechiae, Failure to thrive, Cataract, Low-set ears, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
Mucopolysaccharidosis Type 4 |
|
Hearing impairment, Gait disturbance, Corneal opacity, Short stature |
ORPHA:582 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Low-set ears, Unsteady gait, Recurrent hand flapping, Short stature |
OMIM:618480 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of the skin, Melanocytic nevus, Weight loss, Ocular albinism, Iris hypopigmentat... |
ORPHA:79430 |
Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Short stature, Small for gestational age, Failure to thrive, Cataract, Sparse hai... |
OMIM:619869 |
3P25.3 Microdeletion Syndrome |
|
Abnormality of the outer ear, Abnormal repetitive mannerisms, Sensorineural hearing impairment, A... |
ORPHA:435638 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Alopecia totalis, Elevated circulating creatine kinase concentration, ... |
OMIM:618775 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Disproportionate short stature, Erythroderma |
OMIM:617425 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Sensorineural hearing impairment, Elevated circulating long chain fatty acid co... |
OMIM:214100 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Macrotia, Stereotypical hand wringing, Recurrent hand flapping, Ataxia, F... |
OMIM:300912 |
Sweet Syndrome |
|
Oligoarthritis, Skin vesicle, Pyoderma gangrenosum, Acne inversa, Myositis, Inflammation of the l... |
ORPHA:3243 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Hutchinson-Gilford Progeria Syndrome |
|
Lack of skin elasticity, Dystrophic toenail, Conductive hearing impairment, Shuffling gait, Weigh... |
ORPHA:740 |
Norrie Disease |
|
Abnormal pupil morphology, Macrotia, Sensorineural hearing impairment, Hypoplasia of the iris, An... |
ORPHA:649 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Sensorineural hearing impairment, Hypopigmented ... |
ORPHA:53271 |
Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Hypopigmentation of the skin, Anterior pituitary hypoplasia, Decreased re... |
ORPHA:398073 |
Scalp-Ear-Nipple Syndrome |
|
Abnormal antihelix morphology, Underdeveloped antitragus, Hypohidrosis, Small earlobe, Microtia, ... |
ORPHA:2036 |
Scheie Syndrome |
|
Rhinitis, Sensorineural hearing impairment, Corneal opacity |
ORPHA:93474 |
Yao Syndrome |
|
Weight loss, Inflammatory abnormality of the skin, Arthritis, Skin rash, Keratoconjunctivitis sic... |
OMIM:617321 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Macrotia, Ocular anterior segment dysgenesis, Microcornea, Iris coloboma, Low-set ears, Sclerocornea |
OMIM:615145 |
Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Growth delay |
OMIM:176670 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Recurrent pancreatitis, Hypercholesterolemia, Sparse scalp hair, Gait ata... |
OMIM:606721 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Iritis, Arthritis, Epididymitis, Hypopyon, Patchy alopecia, Eryt... |
OMIM:109650 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Abnormal antihelix morphology, Abnormal repetitive mannerisms, Growth delay, Protruding ear |
ORPHA:261144 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Panniculitis, Weight loss |
ORPHA:86884 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Hypopigmentation of the skin, Short stature, Decreased testicular size, C... |
ORPHA:398069 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... |
ORPHA:79434 |
Carney Complex, Type 1 |
|
Profuse pigmented skin lesions, Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Freckli... |
OMIM:160980 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Nephropathy, Multi... |
ORPHA:116 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Tip-toe gait, Hypoglutaminemia, Hypertaurinemia, Recurrent hand ... |
ORPHA:3008 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Hypopigmentation of the skin, Decreased response to growth hormone stimul... |
ORPHA:739 |
Dyschondrosteosis-Nephritis Syndrome |
|
Mesomelic short stature, Corneal opacity, Short stature, Intrauterine growth retardation |
ORPHA:1765 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Arthritis, Keratoconjunctivitis sicca, Skin ulcer, Purpura, Viral hepatitis |
ORPHA:91138 |
3Q29 Microduplication Syndrome |
|
Aniridia, Iris coloboma, Cataract, Low-set ears, Obesity, Hearing impairment, Sclerocornea |
ORPHA:251038 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Rigidity, Oculomotor apraxia, Spastic dysarthria, Tremor, Distal lower limb muscle... |
ORPHA:240094 |
Moebius Syndrome |
|
Breast aplasia, Multiple cafe-au-lait spots, Corneal opacity, Hearing impairment, Blepharitis |
ORPHA:570 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Hyperglycinemia, Dysdiadochokinesis, Truncal ataxia, Abnor... |
ORPHA:309854 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Short stature |
OMIM:252605 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Unconjugated hyperbilirubinemia, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:766 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Chronic Graft Versus Host Disease |
|
Alopecia, Skin vesicle, Abnormality of skin pigmentation, Weight loss, Bronchiectasis, Arthritis,... |
ORPHA:99921 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Chorea, Horizontal eyebrow, Abnormal location of the eyebrow, Widow's peak, Choreoathetosis, Repe... |
ORPHA:522077 |
Blau Syndrome |
|
Iridocyclitis, Erythema nodosum, Skin rash, Skin ulcer, Synovitis, Hyperpigmentation of the skin,... |
ORPHA:90340 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Megalocornea, Sparse scalp hair, Cutis laxa, Short stature, Agenesis of pineal gland, Posterior s... |
ORPHA:536471 |
Campomelic Dysplasia |
|
11 pairs of ribs, Hydronephrosis, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip d... |
ORPHA:140 |
Mucopolysaccharidosis, Type Vi |
|
Short stature, Disproportionate short-trunk short stature, Hirsutism, Corneal opacity, Pneumonia,... |
OMIM:253200 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hyperhidrosis, Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoath... |
OMIM:608643 |
Prader-Willi Syndrome |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Generalized ... |
OMIM:176270 |
Letterer-Siwe Disease |
|
Stomatitis, Seborrheic dermatitis, Pallor |
OMIM:246400 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Abnormal repetitive mannerisms |
ORPHA:85277 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Phakodonesis, Anterior synechiae of the anterior chamber, Short finger, Ectopia lentis, Broad hal... |
OMIM:601552 |
Farber Disease |
|
Abnormal conjunctiva morphology, Short stature, Arthritis, Failure to thrive, Corneal opacity, Op... |
ORPHA:333 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Skin rash, Recurrent hand flapping, Chorea |
OMIM:617600 |
Candidiasis, Familial, 8 |
|
Seborrheic dermatitis, Chronic oral candidiasis, Cheilitis, Blepharitis |
OMIM:615527 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Corneal erosion, Keratoconjunctivitis sicca, Skin ulcer, Chemosis, Pneumonia, Skin rash, Hyperpig... |
ORPHA:95455 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Moderate postnatal growth retardation, Cataract, Coarse hair, Sparse hair, Hyperkeratosis with er... |
OMIM:118650 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Rhizomelia, Pes planus, Recurrent patellar dislocation, Microcornea, Cataract... |
OMIM:615877 |
Albinism, Oculocutaneous, Type Ia |
|
Ocular albinism, Albinism, Hypopigmentation of hair, Astigmatism, Blue irides, White hair, Absent... |
OMIM:203100 |
Mosaic Variegated Aneuploidy Syndrome |
|
Hypothyroidism, Abnormality of skin pigmentation, Short stature, Cataract, Multiple cafe-au-lait ... |
ORPHA:1052 |
Cog2-Cdg |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
ORPHA:435934 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
OMIM:617395 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Microtia, Elevated circulating creatine kinase concentration, Buphthalmos, Cataract... |
OMIM:236670 |
D-Glyceric Aciduria |
|
Sensorineural hearing impairment, Failure to thrive, Tongue thrusting, Growth delay, Opisthotonus... |
OMIM:220120 |
Autosomal Dominant Cutis Laxa |
|
Cutis laxa, Dermal translucency, Bronchiectasis, Premature skin wrinkling, Pyelonephritis, Redund... |
ORPHA:90348 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Hydronephrosis, Progressive forearm bowing, Tarsometatarsal synostosis, ... |
OMIM:600383 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sensorineural hearing impairment, Cataract, Growth delay, Cryptorchidism, Low-set ears, Sclerocor... |
OMIM:614230 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Small nail, Cafe-au-lait spot, Sensorineural hearing impairment, Synophrys, Thin eyebrow, Failure... |
OMIM:608670 |
Cushing Disease |
|
Recurrent cutaneous fungal infections, Striae distensae, Sparse scalp hair, Pituitary corticotrop... |
ORPHA:96253 |
Parkinson Disease 20, Early-Onset |
|
Parkinsonism, Rigidity, Eyelid apraxia, Tremor, Leg muscle stiffness, Involuntary movements, Dyst... |
OMIM:615530 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... |
OMIM:221900 |
Acquired Purpura Fulminans |
|
Macular purpura, Skin rash, Pyoderma gangrenosum, Elevated circulating C-reactive protein concent... |
ORPHA:49566 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Hypopigmentation of the skin, Decreased testicular size, Small pituitary ... |
ORPHA:398079 |
Mosaic Trisomy 9 |
|
Small nail, Corneal opacity, Cryptorchidism, Low-set ears, Intrauterine growth retardation |
ORPHA:99776 |
African Iron Overload |
|
Increased circulating cortisol level, Hepatitis, Elevated transferrin saturation, Viral hepatitis... |
ORPHA:139507 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Sensorineural hearing impairment, Cachexia, Skin ulcer, Limb ataxia, Ecch... |
ORPHA:2072 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
Meacham Syndrome |
|
Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Fragile X Syndrome |
|
Congenital macroorchidism, Recurrent hand flapping, Macrotia, Macroorchidism, postpubertal |
OMIM:300624 |
Duane Retraction Syndrome |
|
Abnormal pupil morphology, Irregular hyperpigmentation, Patchy hypopigmentation of hair, Narrow i... |
ORPHA:233 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Rhizomelia, Abnormality of retinal pigmentation, Severe short stature, Lens subluxation, Corneal ... |
ORPHA:85167 |
Wolf-Hirschhorn Syndrome |
|
High anterior hairline, Megalocornea, Microtia, Intrauterine growth retardation, Ataxia, Failure ... |
ORPHA:280 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia, Short stature |
ORPHA:1064 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer, Generalized hypopigmentation, Ocular albinism |
ORPHA:352723 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Corneal erosion, Weight loss, Skin ulcer, Erythema, Acantholysis, Pancreatitis |
ORPHA:537 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Clinodactyly of the 5th finger, Trunc... |
OMIM:618056 |
Leprechaunism |
|
Enlarged kidney, Long penis, Long foot, Hepatomegaly, Enlarged ovaries, Nephrocalcinosis, Hyperca... |
ORPHA:508 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Horizontal eyebrow, Abnormal eyebrow morphology, Conductive hearing impairment, S... |
ORPHA:1606 |
Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Lingual dystonia, Limb dystonia, Torticollis, Laryngeal dystonia, Gen... |
ORPHA:93958 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Neck pterygia, Melanocytic nevus, Increased circulating gonadotropin level, Hyperlipidemia, Vitil... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Neck pterygia, Melanocytic nevus, Increased circulating gonadotropin level, Hyperlipidemia, Vitil... |
ORPHA:99228 |
Monosomy X |
|
Neck pterygia, Melanocytic nevus, Increased circulating gonadotropin level, Hyperlipidemia, Vitil... |
ORPHA:99226 |
Linear Nevus Sebaceus Syndrome |
|
Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Adenoma sebaceum, Iris coloboma, Growth... |
ORPHA:2612 |
Turner Syndrome |
|
Neck pterygia, Melanocytic nevus, Increased circulating gonadotropin level, Hyperlipidemia, Vitil... |
ORPHA:881 |
Mucopolysaccharidosis Type 6 |
|
Failure to thrive, Chronic otitis media, Sinusitis, Opacification of the corneal stroma, Dispropo... |
ORPHA:583 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Spasticity, Genu valgum, Metaphyseal sclerosis, Short femoral neck, Abnormal pyramidal sign, Anem... |
OMIM:612199 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent aphthous stomatitis, Pyoderma gangrenosum, Chronic oral candidiasis, Bronchiectasis, Re... |
OMIM:150550 |
Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Increased circulating copper concentration |
ORPHA:209919 |
Granulomatosis With Polyangiitis |
|
Sensorineural hearing impairment, Prostatitis, Weight loss, Skin rash, Inflammatory abnormality o... |
ORPHA:900 |
Infantile Systemic Hyalinosis |
|
Skin ulcer, Failure to thrive, Severe short stature, Polycystic ovaries, Growth delay, Hyperpigme... |
ORPHA:2176 |
Doors Syndrome |
|
11 pairs of ribs, Triphalangeal thumb, Ambiguous genitalia, Short 5th finger, Abnormal finger mor... |
ORPHA:79500 |
Amoebiasis Due To Free-Living Amoebae |
|
Skin ulcer, Unusual skin infection, Ataxia, Pustule, Sinusitis, Corneal perforation, Infectious e... |
ORPHA:68 |
Granulomatosis With Polyangiitis |
|
Conjunctivitis, Weight loss, Skin ulcer, Uveitis, Sinusitis, Episcleritis, Keratitis, Chronic oti... |
OMIM:608710 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased total iron binding capacity, Short stature, Hyperbilirubinemia, Pallor, Increased serum... |
ORPHA:98870 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Recurrent sinusitis, Parotitis, Panniculitis, Sparse axillary hair, Ep... |
OMIM:256040 |
Osteogenesis Imperfecta |
|
Hyperhidrosis, Somatic sensory dysfunction, Paresthesia, Progressive hearing impairment, Cutis la... |
ORPHA:666 |
Macrocephaly-Developmental Delay Syndrome |
|
Recurrent pneumonia, Abnormal speech discrimination, Abnormal repetitive mannerisms |
ORPHA:397612 |
Roberts Syndrome |
|
Knee flexion contracture, Aplasia/Hypoplasia of the thumb, Complete duplication of thumb phalanx,... |
ORPHA:3103 |
Chronic Granulomatous Disease |
|
Inflammatory abnormality of the eye, Skin ulcer, Eczema, Sinusitis, Otitis media, Hypermelanotic ... |
ORPHA:379 |
Boomerang Dysplasia |
|
Hypoplastic iliac body, Fibular aplasia, Absent radius |
OMIM:112310 |
Williams Syndrome |
|
Hypothyroidism, Abnormal circulating lipid concentration, Aplasia/Hypoplasia of the iris, Elevate... |
ORPHA:904 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Dystonia, Bradykinesia |
OMIM:168600 |
Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Microcoria, Flat capital femoral epiphysis, Hip dislocation, Ivory e... |
ORPHA:93357 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Spastic gait, Dysdiadochokinesis, Upper limb po... |
ORPHA:99027 |
Adult-Onset Dystonia-Parkinsonism |
|
Spasticity, Rigidity, Eyelid apraxia, Clumsiness, Parkinsonism with favorable response to dopamin... |
ORPHA:199351 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Growth delay, Cryptorchidism, Hearing impairment, Sclerocornea |
ORPHA:77298 |
Distal Monosomy 19P13.3 |
|
Alopecia, Conductive hearing impairment, Sensorineural hearing impairment, Low-set, posteriorly r... |
ORPHA:96129 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Irregular hyperpigmentation, Skin ulcer |
ORPHA:624 |
African Trypanosomiasis |
|
Conjunctivitis, Alopecia, Somatic sensory dysfunction, Myelitis, Paresthesia, Weight loss, Akines... |
ORPHA:3385 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Gait ataxia, Sparse lateral eyebrow, Pineal cyst, Repetitive compulsive behavior, Recurrent otiti... |
ORPHA:513456 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Gait ataxia, Inability to walk, Recurrent hand flapping, Choreoathetosis, Ataxia, Tongue thrustin... |
OMIM:619580 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Abnormal repetitive mannerisms |
ORPHA:313892 |
Dpagt1-Cdg |
|
Head-banging, Akinesia, Inability to walk, Developmental cataract, Ataxia, Hypertrichosis, Failur... |
ORPHA:86309 |
Gaucher Disease |
|
Abnormality of skin pigmentation, Osteomyelitis, Short stature, Hepatitis, Ataxia, Delayed pubert... |
ORPHA:355 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Al-Gazali Syndrome |
|
Failure to thrive, Corneal opacity, Recurrent pneumonia, Sclerocornea |
OMIM:609465 |
Meige Disease |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis, Skin ulcer, Recurrent skin ... |
ORPHA:90186 |
Larsen Syndrome |
|
Conductive hearing impairment, Short stature, Short nail, Corneal opacity, Cryptorchidism, Intrau... |
OMIM:150250 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent aphthous stomatitis, Pyoderma gangrenosum, Rhinitis, Periodontitis, Recurrent skin infe... |
ORPHA:486 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Oculomotor apraxia, Limb a... |
OMIM:606002 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short stature, Abnormal repetitive mannerisms, Iris coloboma, Hearing impairment, Exocrine pancre... |
ORPHA:508498 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Thick eyebrow, Hearing impairment, High anterior hairline, Horizontal eyebrow, Recurrent otitis m... |
OMIM:619950 |
Localized Scleroderma |
|
Arthritis, Fasciitis, Uveitis, Hypopigmented skin patches, Vitiligo, Hashimoto thyroiditis, Abnor... |
ORPHA:90289 |
Immunodeficiency 47 |
|
Sensorineural hearing impairment, Cutis laxa, Decreased circulating copper concentration, Failure... |
OMIM:300972 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Alopecia, Hypopigmentation of the skin, Abnormal conjunctiva morpho... |
ORPHA:797 |
Carpenter Syndrome 1 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Microcornea, Abno... |
OMIM:201000 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Pearson Syndrome |
|
Hypothyroidism, Adrenal insufficiency, Hypoparathyroidism, Hearing impairment, Postnatal growth r... |
ORPHA:699 |
Dermatomyositis |
|
Weight loss, Arthritis, Skin ulcer, Abnormality of the nail, Pericarditis, Abnormal hair quantity... |
ORPHA:221 |
Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hyperphosphatemia, Decreased response to growth hormone stimulation test, Fair hair, Mild short s... |
ORPHA:280651 |
Stromme Syndrome |
|
Microcornea, Iris coloboma, Peters anomaly, Cataract, Stillbirth, Low-set ears, Sclerocornea |
OMIM:243605 |
Fryns Syndrome |
|
Hypoplastic fingernail, Low-set, posteriorly rotated ears, Corneal opacity, Cryptorchidism |
ORPHA:2059 |
Complement Component 5 Deficiency |
|
Generalized seborrheic dermatitis |
OMIM:609536 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Tremor, Hypertonia |
OMIM:176500 |
Plague |
|
Lymphadenitis, Endocarditis, Enterocolitis, Mydriasis, Erythema nodosum, Skin rash, Inflammatory ... |
ORPHA:707 |
Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Absent eyelashes, Premature skin wrinkling, Alopecia universalis, Abse... |
ORPHA:363618 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
Steinert Myotonic Dystrophy |
|
Alopecia, Decreased response to growth hormone stimulation test, Falls, Abnormality of thyroid ph... |
ORPHA:273 |
Phakomatosis Pigmentokeratotica |
|
Hyperhidrosis, Melanocytic nevus, Pheochromocytoma, Hyperesthesia, Hypophosphatemic rickets, Patc... |
ORPHA:2874 |
Immunoglobulin A Vasculitis |
|
Skin rash, Arthritis, Skin ulcer, Purpura, Pustule, Erythema, Episcleritis, Infectious encephalit... |
ORPHA:761 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer, Symblepharon, Nail dystrophy, Recurrent loss of toenails and fingernails, Corneal pte... |
OMIM:245660 |
Bloom Syndrome |
|
Hypopigmentation of the skin, Rhinitis, Cafe-au-lait spot, Small for gestational age, Skin rash, ... |
ORPHA:125 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcem... |
ORPHA:94059 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Thin ear helix, Eczema, Abnormal repetitive mannerisms, Severe short stature, Severe failure to t... |
ORPHA:468631 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Abnormal lymph node morphology, Pedal edema, Pituitary corticotropic cell adenoma, Atypical pulmo... |
ORPHA:99889 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott... |
OMIM:304120 |
Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
Campomelic Dysplasia |
|
Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo... |
OMIM:114290 |
Waardenburg Syndrome, Type 4C |
|
Sensorineural hearing impairment, Premature graying of hair, White eyelashes, White eyebrow, Hypo... |
OMIM:613266 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea, Arthritis, Myocarditis, Skin ulcer |
ORPHA:464343 |
Occipital Horn Syndrome |
|
Pili torti, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conce... |
OMIM:304150 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma, Atresia of the external auditory canal |
OMIM:601356 |
Diffuse Cutaneous Systemic Sclerosis |
|
Arthritis, Skin ulcer, Xerostomia |
ORPHA:220393 |
Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Iris coloboma, Corneal opacity, Abnormal eyelash morphology |
ORPHA:2396 |
Wiskott-Aldrich Syndrome |
|
Conjunctivitis, Hypoplasia of the thymus, Petechiae, Arthritis, Skin ulcer, Purpura, Eczema, Infl... |
ORPHA:906 |
Mucopolysaccharidosis Type 2 |
|
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Short stature, Hip... |
ORPHA:580 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Alopecia, Dry hair, Ovarian cyst, Short stature, Low-set ears, Sparse hair, Hea... |
OMIM:311200 |
Monosomy 22Q13.3 |
|
Hypoplastic toenails, Hypohidrosis, Macrotia, Bruxism, Long eyelashes, Obesity, Impaired pain sen... |
ORPHA:48652 |
Bainbridge-Ropers Syndrome |
|
Synophrys, Recurrent hand flapping, Highly arched eyebrow, Inability to walk |
ORPHA:352577 |
Malakoplakia |
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Inflammatory abnormality of the skin, Skin rash, Skin ulcer, Urinary bladder inflammation, Orchit... |
ORPHA:556 |
Axenfeld-Rieger Syndrome, Type 2 |
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Anterior chamber synechiae, Microcornea, Cryptorchidism, Opacification of the corneal stroma, Hea... |
OMIM:601499 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
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Cerebral palsy, Parkinsonism, Oculogyric crisis, Maturity-onset diabetes of the young, Tremor, Hy... |
ORPHA:1578 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Microphthalmia-Brain Atrophy Syndrome |
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Tongue thrusting |
ORPHA:77299 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Small for gestational age, Opacification of the corneal stroma, Short stature |
OMIM:215250 |
Smith-Lemli-Opitz Syndrome |
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Sensorineural hearing impairment, Rhizomelia, Short stature, Hypopigmentation of hair, Iris colob... |
ORPHA:818 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Histiocytoid Cardiomyopathy |
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Megalocornea, Pallor, Failure to thrive, Polycystic ovaries, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Aniridia 1 |
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Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
Childhood Disintegrative Disorder |
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Abnormal repetitive mannerisms |
ORPHA:168782 |
Charge Syndrome |
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Hypothyroidism, Gonadotropin deficiency, Micrognathia, Parathyroid hypoplasia, Hypoparathyroidism... |
OMIM:214800 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
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Opacification of the corneal stroma, Disproportionate short-trunk short stature, Postnatal growth... |
OMIM:313400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Medial flaring of the eyebrow, Synophrys, Thyroid hypoplasia, Small pituitary gland, Scaling skin... |
OMIM:619503 |
Autosomal Recessive Robinow Syndrome |
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Alopecia, Fingernail dysplasia, Long eyelashes, Disproportionate short-limb short stature, Chroni... |
ORPHA:1507 |
Okur-Chung Neurodevelopmental Syndrome |
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Synophrys, Recurrent hand flapping, Ataxia, Failure to thrive, Low-set ears, Cupped ear, Highly a... |
OMIM:617062 |
Degcags Syndrome |
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Premature graying of hair, Synophrys, Abnormal eyelash morphology, Pneumonia, Hearing impairment,... |
OMIM:619488 |
Galactosialidosis |
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Severe short stature, Opacification of the corneal stroma, Conjunctival telangiectasia, Hearing i... |
OMIM:256540 |
Leukocyte Adhesion Deficiency |
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Conjunctivitis, Recurrent aphthous stomatitis, Pyoderma gangrenosum, Perianal abscess, Bronchiect... |
ORPHA:2968 |
Mucopolysaccharidosis Type 7 |
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Hepatitis, Corneal opacity |
ORPHA:584 |
Mucopolysaccharidosis, Type Iva |
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Recurrent pneumonia, Opacification of the corneal stroma, Disproportionate short-trunk short stat... |
OMIM:253000 |
Autosomal Dominant Robinow Syndrome |
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Alopecia, Short stature, Fingernail dysplasia, Long eyelashes, Ridged fingernail, Severe short st... |
ORPHA:3107 |
Peters Plus Syndrome |
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Conductive hearing impairment, Rhizomelia, Short stature, Anterior hypopituitarism, Anterior cham... |
ORPHA:709 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Hypoplasminogenemia |
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Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Pilomatrixoma, Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Co... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Pilomatrixoma, Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Co... |
ORPHA:353277 |
Rutherfurd Syndrome |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Yunis-Varon Syndrome |
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Sparse eyebrow, Sparse scalp hair, Aplasia/Hypoplasia of the nails, Low-set ears, Short stature, ... |
ORPHA:3472 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Pilomatrixoma, Conductive hearing impairment, Sensorineural hearing impairment, Short stature, Ab... |
ORPHA:353281 |
Tsh-Secreting Pituitary Adenoma |
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Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
Fraser Syndrome 1 |
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Hypoplastic superior helix, Small nail, Conductive hearing impairment, Absent eyelashes, Extensio... |
OMIM:219000 |
Infantile Nephropathic Cystinosis |
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Abnormality of thyroid physiology, Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal bloo... |
ORPHA:411629 |
Coloboma, Ocular, Autosomal Dominant |
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Growth delay, Peters anomaly, Corneal opacity |
OMIM:120200 |
Lathosterolosis |
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Microcornea, Failure to thrive, Cataract, Intrauterine growth retardation, Opacification of the c... |
ORPHA:46059 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Inability to walk, Abnormal repetitive mannerisms, Disproportionate short stature, Recurrent pneu... |
ORPHA:508533 |
Microphthalmia, Syndromic 3 |
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Anterior pituitary hypoplasia, Sensorineural hearing impairment, Short stature, Cataract, Cryptor... |
OMIM:206900 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Generalized hypopigmentation, Short stature, Azotemia, Decreased testicular size, Hypop... |
OMIM:619321 |
Ring Chromosome 13 Syndrome |
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Alopecia, Abnormality of skin pigmentation, Cafe-au-lait spot, Macrotia, Hypoplasia of the gallbl... |
ORPHA:96176 |
Oculoectodermal Syndrome |
|
Pineal cyst, Limbal dermoid, Supernumerary nipple, Microcornea, Astigmatism, Growth delay, Hyperp... |
OMIM:600268 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Menkes Disease |
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Chorea, Osteomyelitis, Woolly hair, Hypopigmentation of hair, Intrauterine growth retardation, Sp... |
ORPHA:565 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Broad foot, Ambiguous genitalia, Humeroradial synostosis, Vesicovaginal fistula, Adrenal insuffic... |
OMIM:201750 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Hypothyroidism, Failure to thrive, Impaired pain sensation, Cryptorchidism, Intrauterine growth r... |
ORPHA:453499 |
Neurodegeneration With Brain Iron Accumulation 1 |
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Acanthocytosis, Spasticity, Blepharospasm, Abnormal pyramidal sign, Parkinsonism, Abnormal foot m... |
OMIM:234200 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Enlarged kidney, Patent urachus, Penoscrotal hypospadias, Micropenis |
OMIM:618280 |
Rett Syndrome, Congenital Variant |
|
Chorea, Bruxism, Tongue thrusting, Athetosis, Dystonia, Protruding ear |
OMIM:613454 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms |
ORPHA:572013 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Short toe, Rhizomelia, Short ribs, Stage 1 chronic kidney disease, ... |
OMIM:218330 |
Yunis-Varon Syndrome |
|
Palmoplantar hyperkeratosis, Redundant neck skin, Prominent antihelix, Sparse eyelashes, Cupped e... |
OMIM:216340 |
Autosomal Dominant Optic Atrophy And Cataract |
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Areflexia of lower limbs, Cerulean cataract, Anterior subcapsular cataract, Posterior subcapsular... |
ORPHA:67036 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Short stature, Iris coloboma, Peters anomaly, Cataract, Hearing impairment, Pigmentary retinopath... |
OMIM:309801 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Gait disturbance, Recurrent hand flapping, Dystonia, Bruxism |
OMIM:617903 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Periodontitis, Skin ulcer, Chronic mucocutaneous candidiasis, Elevated circulating... |
OMIM:116920 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Short stature, Widow's peak, Hypopigmentation of hair, Coarse hair, Overfolded helix, P... |
ORPHA:1974 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Short stature, Hyperopi... |
OMIM:252600 |
Kinsship Syndrome |
|
Short stature, Synophrys, Failure to thrive, Low-set ears, Hypertrichosis, Bruxism |
OMIM:619297 |
Pierson Syndrome |
|
Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Nephrotic syndrome, Stage 5 chronic k... |
OMIM:609049 |
Roberts-Sc Phocomelia Syndrome |
|
Cafe-au-lait spot, Postnatal growth retardation, Cataract, Corneal opacity, Abnormal pinna morpho... |
OMIM:268300 |
Alzahrani-Kuwahara Syndrome |
|
Macrotia, Tip-toe gait, Low-set ears, Short stature, Eczema, Astigmatism, Cataract, Hearing impai... |
OMIM:619268 |
Acute Transverse Myelitis |
|
Somatic sensory dysfunction, Paresthesia, Gait disturbance, Decreased circulating copper concentr... |
ORPHA:139417 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer, Adenoma sebaceum |
ORPHA:493 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Short stature, Art... |
ORPHA:217085 |
Townes-Brocks Syndrome |
|
Toe syndactyly, Iris coloboma, Absent toe, Vesicoureteral reflux, Hypoplasia of penis, Partial du... |
ORPHA:857 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Conductive hearing impairment, Otosclerosis, Sensorineural hearing impairment, Short stature, Art... |
ORPHA:217093 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Failure to thrive, Thyroid C cell hyperplasia, Sclerocornea, Hyperpigmented streaks |
OMIM:300952 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Hyperhidrosis, Hypothyroidism, Conductive hearing impairment, Sensorineural hearing impairment, I... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Hyperhidrosis, Hypothyroidism, Conductive hearing impairment, Sensorineural hearing impairment, I... |
ORPHA:352665 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Ulbright-Hodes Syndrome |
|
Short sternum, Humeroradial synostosis, Short ribs, Short metacarpal, Micrognathia, Hypoplasia of... |
ORPHA:3404 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Abnormal repetitive mannerisms, Paroxysmal dystonia |
ORPHA:98784 |
Van Den Ende-Gupta Syndrome |
|
Small earlobe, Abnormal eyebrow morphology, Protruding ear, Sclerocornea, Overfolded helix, Poste... |
OMIM:600920 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Hypothyroidism, High anterior hairline, Increased circulat... |
ORPHA:438213 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Pallister-Killian Syndrome |
|
Inability to walk, Supernumerary nipple, Sparse eyelashes, Sparse hair, Hearing impairment, Poste... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal pupil morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of skin pigme... |
ORPHA:286 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Abnormal tragus morphology, Thin eyebrow, Severe short stature, Sparse hair, Cryptorchi... |
ORPHA:2636 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Limb dystonia, Corneal neovascularization, Developmental catar... |
OMIM:175780 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
Mosaic Trisomy 1 |
|
Small nail, Abnormal pinna morphology, Low-set ears, Opacification of the corneal stroma, Hypopla... |
ORPHA:1692 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma, Short stature |
OMIM:169550 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Viss Syndrome |
|
Alopecia, Hypothyroidism, Sparse scalp hair, Macrotia, Cutis laxa, Exostosis of the external audi... |
OMIM:619472 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Choreoacanthocytosis |
|
Chorea, Blepharospasm, Head-banging, Falls, Weight loss, Resting tremor, Lingual dystonia, Arthri... |
ORPHA:2388 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Synophrys, Abnormal repetitive mannerisms, Low-set ears, Protruding ear |
ORPHA:447997 |
Parkes Weber Syndrome |
|
Somatic sensory dysfunction, Skin ulcer, Scaling skin, Abnormal B-type natriuretic peptide concen... |
ORPHA:90307 |
Lathosterolosis |
|
Conductive hearing impairment, Bilobate gallbladder, Abnormal circulating cholesterol concentrati... |
OMIM:607330 |
Fryns Syndrome |
|
Small nail, Large for gestational age, Ectopic pancreatic tissue, Stillbirth, Cryptorchidism, Fac... |
OMIM:229850 |
Mowat-Wilson Syndrome |
|
Conductive hearing impairment, Decreased body weight, Inability to walk, Broad eyebrow, Iris colo... |
ORPHA:2152 |
Proboscis Lateralis |
|
Abnormal location of the eyebrow, Abnormal eyebrow morphology, Microcornea, Iris coloboma, Catara... |
ORPHA:141099 |
Focal Dermal Hypoplasia |
|
Supernumerary nipple, Ectopia lentis, Nail dysplasia, Iris coloboma, Sparse hair, Linear hyperpig... |
OMIM:305600 |
Trichotillomania |
|
Alopecia |
OMIM:613229 |
Phace Syndrome |
|
Hypothyroidism, Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Ectopic thyroid, Sc... |
ORPHA:42775 |
Childhood Absence Epilepsy |
|
Punding, Pallor |
ORPHA:64280 |
Angioosteohypertrophic Syndrome |
|
Hyperpigmented nevi, Cataract, Skin ulcer, Melanocytic nevus |
ORPHA:2346 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Inability to walk, Broad eyebrow, Iris coloboma, Uplifted earlobe, Posteriorly rotated ears, Recu... |
ORPHA:261552 |
Apolipoprotein A-I Deficiency |
|
Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Opacification ... |
ORPHA:425 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Sensorineural hearing impairment, Inability to walk, Short stature, Broad eyebrow, Bruxism, Axenf... |
ORPHA:261537 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Multicystic kidney dysplasia, Flexion contracture of toe, Micrognathi... |
OMIM:300373 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron, Pallor |
OMIM:616959 |
Meckel Syndrome |
|
Pancreatic cysts, Aplasia/Hypoplasia of the iris, Microcornea, Cataract, Pancreatic fibrosis, Cry... |
ORPHA:564 |
Microphthalmia, Syndromic 6 |
|
Hypothyroidism, Macrotia, Low-set ears, Anterior hypopituitarism, Protruding ear, Microcornea, Fa... |
OMIM:607932 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Vertigo, Tinnitus, Hyperkeratosis, Hearing impairment |
ORPHA:79280 |
Nmda Receptor Encephalitis |
|
Chorea, Oculogyric crisis, Choreoathetosis, Abnormal repetitive mannerisms, Testicular teratoma, ... |
ORPHA:217253 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Small nail, Supernumerary nipple |
OMIM:100300 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Vesicoureteral reflux, Small hand, Micrognathia, Cataract, Hypospadias, Horsesho... |
ORPHA:444077 |
Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
Limb Body Wall Complex |
|
Lens subluxation, Iris coloboma, Corneal opacity |
ORPHA:2369 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Megalocornea, Elevated circulating creatine kinase concentration, Pallor, Buphthalmos, Cataract, ... |
OMIM:253280 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Low-set ears, Bruxism, Ataxia |
OMIM:616393 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior |
OMIM:607485 |
Tuberous Sclerosis Complex |
|
Parathyroid adenoma, Parathyroid hyperplasia, Repetitive compulsive behavior, Pituitary adenoma, ... |
ORPHA:805 |
Split Cord Malformation |
|
Hyperpigmentation of the skin, Penetrating foot ulcers, Tufted hairs, Hypertrichosis |
ORPHA:573278 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Decreased serum iron, Conjunctival ic... |
ORPHA:447 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Opacification of the corneal stroma, Elevated circulating creatine kin... |
OMIM:615287 |
Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |