combined oxidative phosphorylation deficiency 35 (DOID:0111464)
Alliance: disease page
Synonyms: COXPD35
Alt IDs: OMIM:617873
Definition: 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 the TRIT1 gene on chromosome 1p34.2.