DISEASES

Disease-gene associations mined from literature

Human genes for combined oxidative phosphorylation deficiency 4

Combined oxidative phosphorylation deficiency 4 [DOID:0111494]

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in TUFM on chromosome 16p11.2.

Synonyms:  combined oxidative phosphorylation deficiency 4,  DOID:0111494,  COXPD4