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Developmental And Epileptic Encephalopathy 88

Disease ID: disease_node_16167

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DbxrefMIM:618959
SubclassofDOID_0050737, DOID_0112202
Data SourceDOID
SynonymsDEE88, early infantile epileptic encephalopathy 88
Doid Labeldevelopmental and epileptic encephalopathy 88
Doid DescriptionA developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15.
Has Material Basis InGENO_0000148
Disease Node Iddisease_node_16167
Doid IdDOID_0112222
LabelDevelopmental And Epileptic Encephalopathy 88