OBO ID: DOID:0050946
Term Name: Charlevoix-Saguenay spastic ataxia Search Ontology:
Synonyms:
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. (3)
References:
Ontology: Human Disease   (DOID:0050946)
OTHER Charlevoix-Saguenay spastic ataxia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SACS Spastic ataxia, Charlevoix-Saguenay type 270550
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None