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DOID:0050946 - Charlevoix-Saguenay spastic ataxia
Disease Ontology 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.
Synonyms:
Xenbase Genes
:
sacs
| MONDO:0010041 - Charlevoix-Saguenay spastic ataxia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive cerebellar ataxia (is_a)