" /> Spinocerebellar ataxia 31 - CISMeF





Preferred Label : Spinocerebellar ataxia 31;

Symbol : SCA31;

CISMeF acronym : SCA31;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, 16q22-linked;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a 2.5- to 3.8-kb insertion containing pentanucleotide expansion repeats including (TGGAA)n within an intron of the brain-expressed, associated with NEDD4 gene (BEAN, 612051.0001);

Prefixed ID : #117210;

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29/07/2025


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