Term Name:	French Canadian Leigh disease
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
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.
Ontology:	Human Disease [DOID:0111180]   ( DOID:0111180 )