mitochondrial proton-transporting ATP synthase complex deficiency
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).
MONDO:0016805
obsolete isolated oxidative phosphorylation complex disorder (obsolete MONDO:0016805)
excluded_subClassOf
MONDO:0000732
combined oxidative phosphorylation deficiency
is_a
isolated ATP synthase deficiency
narrow
isolated mitochondrial respiratory chain complex V deficiency
narrow
SPCC1840.06 SPAC25H1.10c SPAC9.12c SPAC14C4.14