DISEASES

Disease-gene associations mined from literature

Human genes for combined oxidative phosphorylation deficiency 35

Combined oxidative phosphorylation deficiency 35 [DOID:0111464]

A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in TRIT1 on chromosome 1p34.2.

Synonyms:  combined oxidative phosphorylation deficiency 35,  DOID:0111464,  COXPD35