mitochondrial complex I deficiency
A type of mitochondrial disease charcterized by macrocephaly (large head) with progressive leukodystrophy, encephalopathy, hypertrophic cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. The disease is caused by mutations in any of many genes and the inheritance pattern depends on the responsible gene.
MONDO:0000066
mitochondrial respiratory chain complex deficiency
is_a
NADH coenzyme Q reductase deficiency
exact
complex 1 mitochondrial respiratory chain deficiency
exact
isolated NADH-CoQ reductase deficiency
exact
isolated NADH-coenzyme Q reductase deficiency
exact
isolated NADH-ubiquinone reductase deficiency
exact
isolated complex I deficiency
exact
isolated mitochondrial respiratory chain complex I deficiency
exact
mitochondrial respiratory chain complex I deficiency
exact
SPAC9E9.15 SPAC11E3.12 SPBC18E5.10 SPAC1486.08 SPCC1840.09 SPAC1805.09c