has material basis in germline mutation in TSFM combined oxidative phosphorylation deficiency fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_3 combined oxidative phosphorylation deficiency caused by mutation in TSFM combined oxidative phosphorylation deficiency 3 OMIM:610505 MESH:C566467 UMLS:C1864840 COXPD3 SCTID:720951008 TSFM combined oxidative phosphorylation deficiency MEDGEN:355842 encephalomyopathy, respiratory failure, and lactic acidosis concentric cardiomyopathy, hypotonia, and lactic acidosis Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. DOID:0111486 fatal mitochondrial disease due to COXPD3 MONDO:0012512 GARD:0017035 combined oxidative phosphorylation deficiency type 3 Orphanet:168566