Disease & disorder

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

MONDO:0009069

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.

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Synonyms12

Research intelligence

Directly mapped studies only · unique clinical trials

Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.

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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.