Metadata | |
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ID | DOID:0070381 |
Name | developmental and epileptic encephalopathy 90 |
Definition | A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. https://pubmed.ncbi.nlm.nih.gov/33245860/ |
Xrefs | |
Synonyms |
DEE90 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked inheritance |