congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0009723
Leigh syndrome
is_a
COX deficiency, French-Canadian type
exact
Cox deficiency, Saguenay Lac saint Jean type
related
LSFC
related
Leigh syndrome, French Canadian type
related
Leigh syndrome, French-Canadian type
exact
Leigh syndrome, Saguenay Lac saint Jean type
related
Leigh syndrome, Saguenay-Lac-Saint-Jean type
exact
SLSJ-COX deficiency
exact
congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
exact
cytochrome C oxidase deficiency, French-Canadian type
exact
cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
exact
mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)
exact