DO_rare_slim French Canadian Leigh disease UMLS_CUI:C1857355 A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. disease_ontology MESH:C537004 DOID:0111180 French Canadian type COX deficiency French Canadian type cytochrome c oxidase deficiency GARD:8370 SNOMEDCT_US_2025_09_01:718219002 French Canadian type Leigh syndrome MIM:220111 ORDO:70472 Saguenay Lac saint Jean type COX deficiency Saguenay Lac saint Jean type Leigh syndrome mitochondrial complex IV deficiency nuclear type 5 cytochrome-c oxidase deficiency disease