mitochondrial complex III deficiency
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
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
SPBC16H5.06 SPAC644.07 SPAC1782.07 SPBC30D10.21 SPMIT.05 SPBC947.14c SPBC27B12.14 SPCC737.02c SPCC613.10 SPAP27G11.02 SPBC29A3.18 SPBC16C6.08c