OBO ID: DOID:0080456 |
Term Name: | developmental and epileptic encephalopathy 46 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (2) | ||
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Ontology: | Human Disease ( DOID:0080456 ) |
OTHER developmental and epileptic encephalopathy 46 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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