Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Isolated complex III deficiency is 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). Disease data Classification Disease Synonyms Isolated CoQ-cytochrome C reductase deficiency Izolowany Niedobór kompleksu III mitochondrialnego łańcucha oddechowego Izolowany Niedobór reduktazy koenzymu Q-cytochromu C Izolowany Niedobór reduktazy ubichinionu-cytochromu C Isolated coenzyme Q-cytochrome C reductase deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated ubiquinone-cytochrome C reductase deficiency ORPHA code 1460 OMIM code 616111 ICD10 code G71.3 ICD11 code 5C53.2Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl