fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
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.
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
COXPD3
related
TSFM combined oxidative phosphorylation deficiency
exact
combined oxidative phosphorylation deficiency 3
related
combined oxidative phosphorylation deficiency caused by mutation in TSFM
exact
combined oxidative phosphorylation deficiency type 3
exact
fatal mitochondrial disease due to COXPD3
exact
SPBC800.07c