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DOID:0112122 - X-linked epilepsy with variable learning disabilities and behavior disorders
Disease Ontology Definition:An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2.
Synonyms: X-linked epilepsy-learning disabilities-behavior disorders syndrome
Xenbase Genes
:
syn1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
epilepsy (is_a),
X-linked monogenic disease (is_a)