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