" /> Spastic ataxia 3, autosomal recessive - CISMeF





Preferred Label : Spastic ataxia 3, autosomal recessive;

Symbol : SPAX3;

CISMeF acronym : ARSAL; SPAX3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autosomal recessive spastic ataxia with leukoencephalopathy; ARSAL;

Description : For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the methionyl-tRNA synthetase 2 gene (MARS2, 609728.0001);

Prefixed ID : #611390;

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31/07/2025


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