Term Name: | developmental and epileptic encephalopathy 96 |
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Synonyms: | DEE96 |
Definition: | A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. |
Ontology: | Human Disease [DOID:0070377] ( DOID:0070377 ) |