Autosomal dominant proximal renal tubular acidosis (ADRTA) is a rare inherited disorder that affects the kidneys. It is caused by a mutation in the SLC4A1 gene, which is responsible for the production of a protein called sodium bicarbonate cotrans...

Autosomal dominant rhegmatogenous retinal detachment is a rare genetic disorder that affects the eyes. It is caused by a mutation in the COL2A1 gene, which is responsible for the production of collagen type II, a protein that helps to maintain the...

Autosomal dominant Robinow syndrome is a rare genetic disorder that affects the development of bones and other parts of the body. It is caused by a mutation in the ROR2 gene and is inherited in an autosomal dominant pattern, meaning that only one ...

Autosomal dominant secondary polycythemia is a rare genetic disorder that is caused by a mutation in the EPOR gene. This mutation causes the body to produce too many red blood cells, leading to an increased risk of blood clots and other complicati...

Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare inherited disorder characterized by a deficiency of neutrophils, a type of white blood cell that helps the body fight infection. People with AD-SCN are at an increased risk of rec...

Autosomal dominant slowed nerve conduction velocity (AD-SNCV) is a rare inherited disorder that affects the speed at which electrical signals travel along the nerves. It is caused by a mutation in the gene that codes for the protein myelin, which ...

Autosomal dominant spastic ataxia type 1 (ADSA1) is a rare, inherited neurological disorder characterized by progressive difficulty with coordination and balance (ataxia) and spasticity (stiffness and jerky movements) of the legs. It is caused by ...

Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG10 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 12 (SPG12) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG12 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 13 (SPG13) 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 17 (SPG17) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG17 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 19 (SPG19) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG19 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 29 (SPG29) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the legs. It is caused by mutations in the SPG29 gene, which is located on chromos...

Autosomal dominant spastic paraplegia type 3 (SPG3) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness) and weakness of the lower limbs. It is caused by mutations in the SPG3A gene, which is located on ch...

Autosomal dominant spastic paraplegia type 31 (SPG31) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and tightness of the muscles) and weakness of the lower limbs. It is caused by mutations in the SPG...

Autosomal dominant spastic paraplegia type 36 (SPG36) is a rare, inherited neurological disorder characterized by progressive spasticity (stiffness and difficulty with movement) of the lower limbs. It is caused by mutations in the SPG36 gene, whic...