label: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
label_lc: fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
description: 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.