Autosomal dominant progressive external ophthalmoplegia is an extremely rare condition. Because few cases have been documented, detailed clinical info...

autosomal dominant progressive nephropathy with hypertension is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal dominant proximal renal tubular acidosis is an extremely rare condition. Because few cases have been documented, detailed clinical informati...

Autosomal dominant pseudohypoaldosteronism type 1, also known as renal PHA1 or PHA1A, is a mild disorder characterized by primary mineralocorticoid re...

Autosomal dominant rhegmatogenous retinal detachment is a condition affecting the retina in which a tear leads to a separation of the retinal layers,...

Autosomal dominant Robinow syndrome is a skeletal dysplasia that primarily affects the development of the limbs, face, and external genitalia. Recogni...

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 sensory ataxia 1 is a hereditary condition that affects the sensory and balance systems, leading to difficulties with coordination...

Autosomal dominant severe congenital neutropenia is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Autosomal dominant sideroblastic anemia is a genetic blood disorder primarily associated with variants in the HSPA9 gene. This condition leads to inef...

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating neuropathy primarily caused by variants in the ARHGEF10 gene. This c...

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

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

Autosomal dominant spondylocostal dysostosis is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Autosomal dominant striatal neurodegeneration type 1 is a neurological condition that primarily affects movement due to dysfunction in the striatal pa...

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

autosomal dominant trichoodontoonychodysplasia-syndactyly is an extremely rare condition. Because few cases have been documented, detailed clinical in...

Autosomal dominant vibratory urticaria is a very rare condition characterized by localized hives and systemic symptoms triggered by skin vibration. Th...