label: mitochondrial proton-transporting ATP synthase complex deficiency
label_lc: mitochondrial proton-transporting atp synthase complex deficiency
description: "A rare, genetic, mitochondrial oxidative phosphorylation disorder that may present with a wide range of symptoms (including muscular hypotonia, hypertrophic cardiomyopathy, psychomotor delay, encephalopathy, peripheral neuropathy, lactic acidosis, 3-methylglutaconic aciduria) and clinical syndromes (including NARP and MILS)."