Metadata | |
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ID | DOID:0070377 |
Name | developmental and epileptic encephalopathy 96 |
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. https://pubmed.ncbi.nlm.nih.gov/31675180/ |
Xrefs | |
Synonyms |
DEE96 [EXACT] |
Parent Relationships |