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...

Autosomal recessive bestrophinopathy is a rare genetic disorder that affects the eyes and kidneys. It is caused by mutations in the BEST1 gene, which is responsible for producing a protein called bestrophin. This protein is important for maintaini...

Autosomal recessive brachyolmia is a rare genetic disorder that affects the bones and muscles. It is caused by mutations in the RMRP gene, which is responsible for the production of a protein that helps to maintain the structure of the skeleton. S...

Autosomal recessive centronuclear myopathy (AR-CNM) is a rare, inherited neuromuscular disorder characterized by muscle weakness and wasting (atrophy) that begins in infancy or early childhood. It is caused by mutations in the DNM2 gene, which is ...

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency is a rare genetic disorder caused by mutations in the CWF19L1 gene. It is characterized by progressive difficulty with balance and coordination, as well as other neurological symptoms...

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare genetic disorder caused by mutations in the STUB1 gene. It is characterized by progressive ataxia (lack of coordination) of the limbs and trunk, as well as intellectual disabi...

Autosomal recessive cerebellar ataxia with late-onset spasticity (ARCA-S) is a rare, inherited neurological disorder characterized by progressive ataxia (lack of muscle coordination) and spasticity (stiffness and jerky movements) that usually begi...

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is a rare genetic disorder caused by mutations in the RUBCN gene. It is characterized by progressive cerebellar ataxia (lack of coordination), ...