DISEASES

Disease-gene associations mined from literature

Human genes for combined oxidative phosphorylation deficiency 2

Combined oxidative phosphorylation deficiency 2 [DOID:0111483]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in MRPS16 on chromosome 10q22.2.

Synonyms:  combined oxidative phosphorylation deficiency 2,  DOID:0111483,  COXPD2,  agenesis of corpus callosum with dysmorphism and fatal lactic acidosis,  agenesis of corpus callosum with dysmorphism and fatal lactic acidosises