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Developmental And Epileptic Encephalopathy 108

Disease ID: disease_node_16244

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DbxrefMIM:620115
SubclassofDOID_0050736, DOID_0112202
Data SourceDOID
SynonymsDEE108, early infantile epileptic encephalopathy 108
Doid Labeldevelopmental and epileptic encephalopathy 108
Doid DescriptionA developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16244
Doid IdDOID_0070394
LabelDevelopmental And Epileptic Encephalopathy 108