OBO ID: DOID:0111464 |
Term Name: | combined oxidative phosphorylation deficiency 35 | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0111464 ) |
OTHER combined oxidative phosphorylation deficiency 35 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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