OBO ID: DOID:0080431 |
Term Name: | developmental and epileptic encephalopathy 19 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. https://www.ncbi.nlm.nih.gov/pubmed/24623842 | ||
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Ontology: | Human Disease ( DOID:0080431 ) |
OTHER developmental and epileptic encephalopathy 19 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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