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Disease Ontology Browser
X-linked epilepsy with variable learning disabilities and behavior disorders (DOID:0112122)
Alliance: disease page
Synonyms: 'X-linked epilepsy-learning disabilities-behavior disorders syndrome'
Alt IDs: OMIM:300491, MESH:C564505, ORDO:85294, UMLS_CUI:C1845343
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/10/2022
MGI 6.19
The Jackson Laboratory