Disease association ontology term - MONDO:0014162 - infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Term summary
- ID
- MONDO:0014162
- Name
- infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
- Ontology or CV name
- Disease association
- Definition
- Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by hypertrophic cardiomyopathy, hepatic steatosis with elevated liver transaminases, exercise intolerance and muscle weakness. Neuro-opthalmological features (hemiplegic migraine, Leigh-like lesions on brain MRI, pigmentary retinopathy) have been reported later in life.
