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Developmental And Epileptic Encephalopathy 98

Disease ID: disease_node_16254

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DbxrefMIM:619605
SubclassofDOID_0050736, DOID_0112202
Data SourceDOID
SynonymsDEE98, early infantile epileptic encephalopathy 98
Doid Labeldevelopmental and epileptic encephalopathy 98
Doid DescriptionA developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16254
Doid IdDOID_0070384
LabelDevelopmental And Epileptic Encephalopathy 98