Autosomal dominant spastic paraplegia type 8 (SPG8) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for the ...

Autosomal dominant spastic paraplegia type 9A (SPG9A) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for th...

Autosomal dominant spastic paraplegia type 9B (SPG9B) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the KIF5A gene, which is responsible for th...

Autosomal dominant spondylocostal dysostosis (ADSD) is a rare genetic disorder that affects the development of the spine and ribs. It is characterized by a short, broad chest, a short neck, and a curved spine. People with ADSD may also have a shor...

Autosomal dominant striatal neurodegeneration (ADSN) is a rare, inherited neurological disorder characterized by progressive degeneration of the striatum, a part of the brain involved in movement and coordination. Symptoms typically begin in child...

Autosomal dominant thrombocytopenia with platelet secretion defect (ADT-PSD) is a rare inherited disorder characterized by a decrease in the number of platelets in the blood (thrombocytopenia) and an inability of platelets to release their content...

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic disorder that affects the kidneys. It is caused by mutations in the UMOD gene, which is responsible for the production of a protein called uromodulin. ADTKD is characte...

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare genetic disorder that affects the eyes. It is characterized by progressive vision loss due to the degeneration of the retina, choroid, and vitreous. Symptoms may include decreased vis...

Autosomal recessive Alport syndrome is a genetic disorder that affects the kidneys and the ears. It is caused by mutations in the COL4A5 gene, which is responsible for producing type IV collagen, a protein that helps form the basement membrane of ...

Autosomal recessive amelia is a rare genetic disorder characterized by the absence of one or more limbs. It is caused by a mutation in a gene on an autosome, which is one of the 22 pairs of chromosomes that are not involved in determining sex. Peo...

Autosomal recessive anterior segment dysgenesis (ARASD) is a rare genetic disorder that affects the development of the anterior segment of the eye. It is characterized by a range of abnormalities in the front part of the eye, including the cornea,...

Autosomal recessive ataxia due to PEX10 deficiency is a rare genetic disorder caused by mutations in the PEX10 gene. It is characterized by progressive ataxia (lack of muscle coordination) and other neurological symptoms, including intellectual di...

Autosomal recessive ataxia due to ubiquinone deficiency is a rare genetic disorder caused by a deficiency of the enzyme coenzyme Q10 (ubiquinone). This disorder is characterized by progressive ataxia (lack of muscle coordination) and other neurolo...

Autosomal recessive ataxia, Beauce type is a rare, inherited neurological disorder characterized by progressive difficulty with coordination and balance (ataxia). It is caused by mutations in the SLC25A4 gene and is inherited in an autosomal reces...

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect is a rare inherited disorder caused by mutations in the ATP7A gene. This gene is responsible for the production of a protein that helps regulate copper levels i...

Autosomal recessive axonal neuropathy with neuromyotonia is a rare genetic disorder characterized by progressive muscle weakness and stiffness (neuromyotonia) and nerve damage (axonal neuropathy). It is caused by mutations in the SLC6A8 gene, whic...