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Summary Literature (0)
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 SYN1 on chromosome Xp11.3-p11.2.

Synonyms: X-linked epilepsy-learning disabilities-behavior disorders syndrome

Xenbase Genes : syn1


OMIM:
OMIM:300491 - EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked disease (is_a), epilepsy (is_a)