OBO ID: DOID:0080444 |
Term Name: | developmental and epileptic encephalopathy 27 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (2) | ||
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Ontology: | Human Disease ( DOID:0080444 ) |
OTHER developmental and epileptic encephalopathy 27 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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