Term Name: | developmental and epileptic encephalopathy 59 |
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Synonyms: | DEE59, early infantile epileptic encephalopathy 59 |
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. |
Ontology: | Human Disease [DOID:0080291] ( DOID:0080291 ) |