Disease association ontology term - MONDO:0016814 - maternally-inherited Leigh syndrome
Term summary
- ID
- MONDO:0016814
- Name
- maternally-inherited Leigh syndrome
- Ontology or CV name
- Disease association
- Definition
- Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
