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ID | DOID:0081325 |
Name | developmental and epileptic encephalopathy 94 |
Definition | A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. https://pubmed.ncbi.nlm.nih.gov/23708187/ |
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