Autosomal recessive spinocerebellar ataxia 17

MONDO:0014503

Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene.

Also known as: CWF19L1 autosomal recessive congenital cerebellar ataxia, SCAR17, autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1, autosomal recessive spinocerebellar ataxia type 17, spinocerebellar ataxia autosomal recessive type 17, spinocerebellar ataxia, autosomal recessive type 17, autosomal recessive cerebellar ataxia due to CWF19L1 deficiency, spinocerebellar ataxia, autosomal recessive 17

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