DISEASES

Disease-gene associations mined from literature

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,  DOID:0060286,  combined oxidative phosphorylation deficiencies