has material basis in germline mutation in MRPL3 combined oxidative phosphorylation deficiency combined oxidative phosphorylation defect type 9 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_9 MRPL3 combined oxidative phosphorylation deficiency combined oxidative phosphorylation deficiency caused by mutation in MRPL3 COXPD9 SCTID:763209008 OMIM:614582 Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. combined oxidative phosphorylation deficiency type 9 UMLS:C4706315 Orphanet:319509 GARD:0017453 combined oxidative phosphorylation deficiency 9 MONDO:0013811 DOID:0111472 MEDGEN:1634481