Autosomal recessive congenital cerebellar ataxia due to PMPCA mutation is a genetic brain movement disorder that starts in infancy or early childhood. “Autosomal recessive” means a child is affected ...
Autosomal recessive spinocerebellar ataxia 2 (SCAR2) is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance and coordination. Most children ...
CWF19L1 - Autosomal Recessive Congenital Cerebellar Ataxia (SCAR17) is a rare, inherited brain disorder that starts in infancy or early childhood. It mainly affects the cerebellum, the part of the ...
Autosomal Recessive Congenital Cerebellar Ataxia Caused by Mutation in CWF19L1 (SCAR17) is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls ...
Autosomal recessive cerebellar ataxia due to CWF19-like cell cycle control factor 1 (CWF19L1) deficiency is a rare, inherited brain disorder that mainly affects the cerebellum, the part of the brain ...
Autosomal Recessive Spinocerebellar Ataxia 17 (SCAR17) is a very rare, inherited brain condition that mainly affects the cerebellum—the part that controls balance, movement coordination, and speech. ...
SCAR16 - Spinocerebellar Ataxia Autosomal Recessive Type 16 is a rare, inherited brain disorder. It mainly damages the cerebellum, the part of the brain that controls balance and coordination. People ...
Autosomal recessive cerebellar ataxia caused by STIP1 homology and U-box containing protein-1 (STUB1/CHIP) deficiency is a genetic form of cerebellar ataxia. “Cerebellar ataxia” means slow, clumsy, ...
Autosomal Recessive Cerebellar Ataxia Caused by Mutations in STUB1 (SCAR16) is a rare, inherited brain disease. It mainly harms the cerebellum, the part of the brain that coordinates movement and ...
Autosomal recessive spinocerebellar ataxia 16 (SCAR16) is a rare, inherited brain disorder that mainly damages the cerebellum, the balance and coordination center. People slowly develop poor balance, ...
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to rubcn (run and cysteine rich domain containing beclin 1 interacting protein) deficiency is a very rare, ...
Autosomal recessive cerebellar ataxia–epilepsy–intellectual disability syndrome due to RUBCN deficiency is a very rare inherited brain disorder. It usually begins in early childhood. Children have ...
Autosomal Recessive Spinocerebellar Ataxia 15 (SCAR15) is a very rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance, coordination, and fine ...
Spectrin-associated autosomal recessive cerebellar ataxia type 1 (SPARCA1) is a rare, inherited brain disorder. “Autosomal recessive” means a child is affected when they receive one faulty copy of ...
Infantile-onset spinocerebellar ataxia is a genetic condition that appears after a period of normal early development. In early childhood, children begin to have unsteady movements, low muscle tone, ...
Autosomal recessive cerebellar ataxia–cognitive defect syndrome is a group of rare genetic diseases. A child gets one faulty copy of a gene from each parent. Parents are usually healthy “carriers.” ...
Autosomal recessive cerebellar ataxia caused by SPTBN2 mutations is a childhood-onset cerebellar ataxia caused by pathogenic variants in both copies of the SPTBN2 gene. SPTBN2 makes β-III spectrin, a ...
Ataxie Spinocérébelleuse à début infantile avec retard psychomoteur is most often called autosomal recessive spinocerebellar ataxia type 14 (SCAR14) and is caused by changes (variants) in a gene ...
Autosomal recessive spinocerebellar ataxia 14 (SCAR14) is a rare, inherited brain disorder. It mainly affects the cerebellum, which controls balance, movement, and eye control. Children usually show ...
WWOX autosomal recessive cerebellar ataxia–epilepsy–intellectual disability syndrome is a rare, inherited brain disorder that starts in infancy or early childhood. Because of a faulty gene called ...
