Human genes for combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency [DOID:0060286]
A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction.
Synonyms: combined oxidative phosphorylation deficiency, combined oxidative phosphorylation deficiencies, DOID:0060286