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Charlevoix-Saguenay spastic ataxia
Summary
- Definition
- An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.
- Super Class
- autosomal recessive cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050946
- Mondo Disease Ontology
- MeSH
- OMIM
- GARD
- MGI genotype (from TogoID)
