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Familial Adult Myoclonic Epilepsy 6

Disease ID: disease_node_16283

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DbxrefMIM:618074
SubclassofDOID_0050736, DOID_0111689
Data SourceDOID
SynonymsBAFME6, FAME6, FCMTE6, benign adult familial myoclonic epilepsy 6, familial cortical myoclonic tremor and epilepsy 6
Doid Labelfamilial adult myoclonic epilepsy 6
Doid DescriptionA familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1.
Existence Starts DuringHP_0003581
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_16283
Doid IdDOID_0111696
LabelFamilial Adult Myoclonic Epilepsy 6