mitochondrial complex III deficiency
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).
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
isolated CoQ-cytochrome C reductase deficiency
exact
isolated coenzyme Q-cytochrome C reductase deficiency
exact
isolated mitochondrial respiratory chain complex III deficiency
exact
isolated ubiquinone-cytochrome C reductase deficiency
exact
mitochondrial respiratory chain complex III deficiency
exact
SPAC1782.07 SPBC27B12.14 SPAC644.07 SPBC16C6.08c SPAP27G11.02 SPBC947.14c SPBC29A3.18 SPBC30D10.21 SPCC737.02c SPMIT.05 SPBC16H5.06 SPCC613.10