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1 Multiple system atrophy Description Multiple sys...
1 Limb-girdle muscular dystrophy Description Limb-...
1 Tibial muscular dystrophy Description Tibial mus...
1 Collagen VI-related dystrophy Description Collag...
1 Cerebral autosomal dominant arteriopathy with su...
1 Atopic dermatitis Description also known as atop...
1 Dermatofibrosarcoma protuberans Description Derm...
1 Alpers-Huttenlocher syndrome Description Alpers-...
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1 Isolated Duane retraction syndrome Description I...
1 Dupuytren contracture Description Dupuytren cont...
1 Dyskeratosis congenita Description Dyskeratosis ...
1 Terminal osseous dysplasia Description Terminal ...
1 Early-onset isolated dystonia Description Early-...
1 EGFR gene epidermal growth factor receptor Norma...
1 ADAMTS2 gene ADAM metallopeptidase with thrombos...
1 Ellis-van Creveld syndrome Description Ellis-van...
1 Autosomal dominant partial epilepsy with auditor...
1 Childhood absence epilepsy Description epilepsye...
1 Essential tremor Description Essential tremor is...
1 Hereditary hyperekplexia Description Hereditary ...
1 Factor X deficiency Description Factor X deficie...
TwoFamilieswithFamilialAmyotrophicLateralSclerosis...
1 Parkinson disease Description Parkinson disease ...
1 Primary familial brain calcification Description...
1 FBLN5 gene fibulin 5 Normal Function The FBLN5 ...
InternationalJournalofGenomicsBiotechnologyInforma...
1 X-linked severe combined immunodeficiency Descri...
1 Sandhoff disease Description Sandhoff disease is...
1 GM2-gangliosidosis, AB variant Description GM2-g...
1 Pantothenate kinase-associated neurodegeneration...
1 Congenital contractural arachnodactyly Descripti...
1 Hereditary angioedema Description Hereditary ang...
1 Stickler syndrome Description Stickler syndrome ...
1 Clouston syndrome Description Clouston syndrome ...
1 Horner syndrome Description Horner syndrome is a...
1 Familial hyperaldosteronism Description Familial...
1 Hypertension Description Hypertension is abnorma...
1 Nail-patella syndrome Description Nail-patella s...
(Last updated December 30, 2021; last reviewed Dec...
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