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Developmental And Epileptic Encephalopathy 26

Disease ID: disease_node_16203

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DbxrefGARD:12391, MIM:616056
SubclassofDOID_0050736, DOID_0112202
Data SourceDOID
SynonymsDEE26, early infantile epileptic encephalopathy 26
Doid Labeldevelopmental and epileptic encephalopathy 26
Doid DescriptionA developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16203
Doid IdDOID_0080461
LabelDevelopmental And Epileptic Encephalopathy 26