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. The disease is infantile hypertrophic cardiomyopathy due to MRPL44 deficiency (MONDO_0014162, a Monarch Disease Ontology identifier). Also known as: COXPD16, MRPL44 combined oxidative phosphorylation deficiency, combined oxidative phosphorylation defect type 16, combined oxidative phosphorylation deficiency caused by mutation in MRPL44, combined oxidative phosphorylation deficiency type 16.