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Developmental And Epileptic Encephalopathy 31A

Disease ID: disease_node_16226

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DbxrefMIM:616346
SubclassofDOID_0050736, DOID_0112202
Data SourceDOID
SynonymsDEE31, DEE31A, developmental and epileptic encephalopathy 31, early infantile epileptic encephalopathy 31
Doid Labeldevelopmental and epileptic encephalopathy 31A
Doid DescriptionA developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16226
Doid IdDOID_0080437
LabelDevelopmental And Epileptic Encephalopathy 31A