A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).
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mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
MONDO:0011421
mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
MONDO:0013546
mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
MONDO:0013547
mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
MONDO:0014091
mitochondrial complex III deficiency, nuclear type
MONDO:0020811
mitochondrial complex V (ATP synthase) deficiency, nuclear type 5
MONDO:0020858