French Canadian Leigh disease (DOID:0111180)
Alliance: disease page
Synonyms: French Canadian type COX deficiency; French Canadian type cytochrome c oxidase deficiency; French Canadian type Leigh syndrome; mitochondrial complex IV deficiency nuclear type 5; Saguenay Lac saint Jean type COX deficiency; Saguenay Lac saint Jean type Leigh syndrome
Alt IDs: OMIM:220111, MESH:C537004, ORDO:70472, UMLS_CUI:C1857355
Definition: 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.