Leigh syndrome, French Canadian type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/220111
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Genes

1 genes associated with the Leigh syndrome, French Canadian type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
LRPPRC leucine-rich pentatricopeptide repeat containing