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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.