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Developmental And Epileptic Encephalopathy 90

Disease ID: disease_node_16257

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DbxrefMIM:301058
SubclassofDOID_0050735, DOID_0112202
Data SourceDOID
SynonymsDEE90
Doid Labeldevelopmental and epileptic encephalopathy 90
Doid DescriptionA 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.
Has Material Basis InGENO_0000936
Disease Node Iddisease_node_16257
Doid IdDOID_0070381
LabelDevelopmental And Epileptic Encephalopathy 90