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Developmental And Epileptic Encephalopathy 109

Disease ID: disease_node_16260

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DbxrefMIM:620145
SubclassofDOID_0050736, DOID_0112202
Data SourceDOID
SynonymsDEE109
Doid Labeldevelopmental and epileptic encephalopathy 109
Doid DescriptionA developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16260
Doid IdDOID_0070378
LabelDevelopmental And Epileptic Encephalopathy 109