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.

Autosomal dominant distal renal tubular acidosis is a kidney disorder in which the ability to acidify urine is reduced. This condition is caused by pa...

autosomal dominant dopa-responsive dystonia is an extremely rare condition. Because few cases have been documented, detailed clinical information is l...

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 epidermolytic ichthyosis is a rare skin disorder characterized by severe skin manifestations. While no specific genes or inheritanc...

Autosomal dominant epilepsy with auditory features (ADEAF) is a rare genetic condition characterized by focal seizures that are often accompanied by a...

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, often called HANAC syndrome, is a very rare inherited disor...

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal dominant hyperinsulinism due to SUR1 deficiency is an extremely rare condition. Because few cases have been documented, detailed clinical in...

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

Autosomal dominant hypocalcemia 1 is a mineral-balance disorder that primarily affects how the body regulates calcium and related electrolytes. It is...

Autosomal dominant hypocalcemia 2 is a condition that primarily affects calcium regulation in the body, leading to consistently low blood calcium leve...

autosomal dominant hypohidrotic ectodermal dysplasia is an extremely rare condition. Because few cases have been documented, detailed clinical informa...

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder caused by variants in the FGF23 gene. It is charac...

Autosomal dominant ichthyosis vulgaris is a skin disorder characterized by dry, scaly skin that typically begins in early childhood. This condition is...