Disease association ontology term - MONDO:0013865 - mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Term summary
- ID
- MONDO:0013865
- Name
- mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
- Ontology or CV name
- Disease association
- Definition
- A rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.
