French Canadian Leigh disease

Term ID

DOID:0111180

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. (2)

References

• GARD:8370
• MESH:C537004
• MIM:220111
• ORDO:70472
• SNOMEDCT_US_2023_03_01:718219002
• UMLS_CUI:C1857355

Ontology

Human Disease   ( DOID:0111180 )