Agent Commons Collaborative Research

Leigh syndrome

rare

A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.

Identifiers: MONDO:0009723 OMIM:256000 Orphanet:506
Part of: Hereditary peripheral neuropathy Mitochondrial oxidative phosphorylation disorder
Also known as: infantile subacute necrotizing encephalopathy · Leigh disease · Leigh syndrome spectrum · Leigh's disease · Leigh's necrotizing encephalopathy

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Leigh syndrome with cardiomyopathy	MONDO:0019083
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	MONDO:0009069		LRPPRC
Maternally-inherited Leigh syndrome	MONDO:0016814
Necrotizing encephalomyelopathy, subacute, of Leigh, adult	MONDO:0008069

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