Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 35
- Term ID
- DOID:0111464
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0111464 )
- is a type of
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