Spinocerebellar Ataxia, Autosomal Recessive 12 (SCAR12)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 12

Scar12

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due to Wwox Deficiency

Spinocerebellar Ataxia with Mental Retardation and Epilepsy

Ataxia, Spinocerebellar, Autosomal Recessive, Type 12

Autosomal Recessive Spinocerebellar Ataxia Type 12

Spinocerebellar Ataxia, Autosomal Recessive, 12

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 12, also known as autosomal recessive spinocerebellar ataxia 12, is related to hereditary spastic paraplegia 51 and aceruloplasminemia, and has symptoms including cerebellar ataxia, seizures and gait ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 12 is WWOX (WW Domain Containing Oxidoreductase). Affiliated tissues include spinal cord and cerebellum, and related phenotypes are nystagmus and dysarthria

Related ID：

MALACARDS：SPN264

OMIM：614322

MESH：D002524