Disease Directory

Autosomal dominant centronuclear myopathy (AD-CNM) is a hereditary muscle disorder in which skeletal muscle fibers show nuclei clustered in the center...

autosomal dominant cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal dominant cerebellar ataxia type I is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

Autosomal dominant cerebellar ataxia type III is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

autosomal dominant cerebellar ataxia type IV is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a very rare neurological and multisystem condition. It primarily affects th...

autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation is an extremely rare condition. Because few cases have been documented, de...

Autosomal dominant childhood-onset proximal spinal muscular atrophy is a neuromuscular condition that primarily affects motor function in the proximal...

Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures is a neuromuscular disorder primarily affecting the muscles of t...

Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures is a neuromuscular condition that primarily affects muscle st...

Autosomal dominant chondrodysplasia punctata is a genetic condition characterized by skeletal dysplasia. While the specific genes associated with this...

Autosomal dominant coarctation of aorta is an extremely rare condition. Because few cases have been documented, detailed clinical information is limit...

autosomal dominant combined immunodeficiency due to ERBIN deficiency is an extremely rare condition. Because few cases have been documented, detailed...

autosomal dominant combined immunodeficiency due to partial IL6ST deficiency is an extremely rare condition. Because few cases have been documented, d...

Autosomal dominant complex spastic paraplegia is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

autosomal dominant complex spastic paraplegia type 9B is an extremely rare condition. Because few cases have been documented, detailed clinical inform...

Autosomal dominant cutis laxa is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Autosomal dominant deafness-onychodystrophy (DDOD) syndrome is a very rare genetic condition that primarily affects hearing, nail development, and the...

autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome is an extremely rare condition. Because few cases have been documente...

Autosomal dominant distal myopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.