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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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory