OBO ID: DOID:0080418 |
Term Name: | developmental and epileptic encephalopathy 54 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. https://www.ncbi.nlm.nih.gov/pubmed/27652284 | ||
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Ontology: | Human Disease ( DOID:0080418 ) |
OTHER developmental and epileptic encephalopathy 54 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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