Term Name: | developmental and epileptic encephalopathy 45 |
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Synonyms: | DEE45, early infantile epileptic encephalopathy 45 |
Definition: | A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. |
Ontology: | Human Disease [DOID:0080428] ( DOID:0080428 ) |