" /> Spinocerebellar ataxia, autosomal recessive 2 - CISMeF





Preferred Label : Spinocerebellar ataxia, autosomal recessive 2;

Symbol : SCAR2;

CISMeF acronym : CPD3; SCAR2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPD3; Cpd III; Cerebelloparenchymal disorder III; Cerebellar granular cell hypoplasia and mental retardation, congenital; Cerebellar hypoplasia, nonprogressive norman type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial processing peptidase, alpha gene (PMPCA, 613036.0001);

Prefixed ID : #213200;

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04/05/2025


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