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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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/12/2023
MGI 6.22
The Jackson Laboratory