Disease Directory

Information about overview is currently limited for this condition.

Autosomal dominant Alport syndrome is a genetic condition that primarily affects the kidneys, ears, and eyes. Individuals with this condition typicall...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare condition that affects the nerves, specifically the axons of per...

autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is an extremely rare condition. Because few cases have been documented, deta...

Autosomal dominant Charcot-Marie-Tooth disease type 2K (CMT2K) is a rare axonal peripheral sensorimotor polyneuropathy characterized by a range of sym...

autosomal dominant Charcot-Marie-Tooth disease type 2M is an extremely rare condition. Because few cases have been documented, detailed clinical infor...

Autosomal dominant Charcot-Marie-Tooth disease type 2W is caused by mutations in the HARS gene. This condition is a subtype of Charcot-Marie-Tooth dis...

Autosomal dominant Ehlers-Danlos syndrome, vascular type (vEDS), is a heritable connective-tissue condition that primarily weakens blood-vessel walls...

Autosomal dominant Emery-Dreifuss muscular dystrophy is an extremely rare condition. Because few cases have been documented, detailed clinical informa...

Autosomal dominant Kenny-Caffey syndrome is a skeletal condition marked by distinctive bone changes and transient imbalances in calcium levels. It is...

Autosomal dominant Parkinson disease 1 is a neurological disorder that primarily affects movement and motor control. It is associated with alterations...

Autosomal dominant Parkinson disease 4 (PARK4) is a late-onset form of Parkinson's disease caused by a heterozygous triplication of the SNCA gene loca...

Autosomal dominant Parkinson disease 8 is a form of Parkinson's disease caused by mutations in the LRRK2 gene. This condition follows an autosomal dom...

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

Autosomal dominant Robinow syndrome 1 is a skeletal dysplasia that primarily affects bone growth and facial development. The condition is caused by ch...

Autosomal dominant Robinow syndrome 2 is a multi-system developmental condition that chiefly affects skeletal growth and craniofacial formation. It is...

Autosomal dominant Robinow syndrome 3 is a genetic condition that primarily affects skeletal development and facial formation, leading to distinctive...

Autosomal dominant aplasia and myelodysplasia is a condition primarily affecting the bone marrow, leading to abnormal blood cell development and bone...

Autosomal dominant auditory neuropathy 1 is caused by mutations in the DIAPH3 gene. This condition leads to auditory neuropathy, which affects the tra...

Autosomal dominant brachyolmia is a genetic skeletal disorder characterized by a short trunk, abnormal spinal development, and progressive spinal curv...