Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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. Disease data Classification Disease Synonyms Fatal mitochondrial disease due to COXPD3 Śmiertelna choroba mitochondrialna spowodowana COXPD3 ORPHA code 168566 OMIM code 610505 ICD10 code E88.8 ICD11 code 5C53.23 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl