Term Name: | developmental and epileptic encephalopathy 43 |
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Synonyms: | DEE43, early infantile epileptic encephalopathy 43 |
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. |
Ontology: | Human Disease [DOID:0080447] ( DOID:0080447 ) |