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mitochondrial proton-transporting ATP synthase complex deficiency

Disease Summary
Associated Targets (4)
Tbio

4


Mondo 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).
Mondo Term and Equivalent IDs
MONDO:0014471:  mitochondrial proton-transporting ATP synthase complex deficiency
OMIMPS:604273: 
Orphanet:254913: 
UMLS:C4015062: