Term Name: | combined oxidative phosphorylation deficiency 35 |
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Synonyms: | COXPD35 |
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. |
Ontology: | Human Disease [DOID:0111464] ( DOID:0111464 ) |