Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

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Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

Synonyms: SLSJ-COX deficiency Leigh syndrome, Saguenay-Lac-Saint-Jean type COX deficiency, French-Canadian type Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type Cytochrome C oxidase deficiency, French-Canadian type Leigh syndrome, French-Canadian type

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

OMIM:220111
UMLS:C1857355
ICD-10:G31.8

notation

ORPHA:70472