OBO ID: DOID:0111492 |
Term Name: | combined oxidative phosphorylation deficiency 32 | Search Ontology: | |
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Definition: | A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. https://www.ncbi.nlm.nih.gov/pubmed/28777931 | ||
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Ontology: | Human Disease ( DOID:0111492 ) |
OTHER combined oxidative phosphorylation deficiency 32 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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