|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. (Orphanet Rare Disease Ontology, Orphanet_70472)|
|Downloads & Tools|
1 genes associated with the leigh syndrome, french-canadian type phenotype from the curated OMIM Gene-Disease Associations dataset.
|LRPPRC||leucine-rich pentatricopeptide repeat containing|