Term Name: | developmental and epileptic encephalopathy 19 |
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Synonyms: | DEE19, early infantile epileptic encephalopathy 19 |
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. |
Ontology: | Human Disease [DOID:0080431] ( DOID:0080431 ) |