OBO ID: DOID:0080447 |
Term Name: | developmental and epileptic encephalopathy 43 | Search Ontology: | |
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Definition: | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (2) | ||
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Ontology: | Human Disease ( DOID:0080447 ) |
OTHER developmental and epileptic encephalopathy 43 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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