OBO ID: DOID:0080291 |
Term Name: | developmental and epileptic encephalopathy 59 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/25262651 | ||
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Ontology: | Human Disease ( DOID:0080291 ) |
OTHER developmental and epileptic encephalopathy 59 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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