Sacsin deficiency

Synonym(s)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- SACS / Sacsin Molecular Chaperone
  13q12.12
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Sacsin molecular chaperone
Disease group(s)
- 11.3 Disorders of mitochondrial protein quality control