has material basis in germline mutation in MRPL44 combined oxidative phosphorylation deficiency infantile hypertrophic cardiomyopathy due to MRPL44 deficiency https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_16 combined oxidative phosphorylation deficiency 16 MRPL44 combined oxidative phosphorylation deficiency OMIM:615395 combined oxidative phosphorylation defect type 16 DOID:0111469 GARD:0012892 Orphanet:352563 MONDO:0014162 combined oxidative phosphorylation deficiency type 16 UMLS:C3809339 COXPD16 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. MEDGEN:815669 combined oxidative phosphorylation deficiency caused by mutation in MRPL44