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X-linked epilepsy with variable learning disabilities and behavior disorders
Summary
- Synonym
-
- X-linked epilepsy-learning disabilities-behavior disorders syndrome
- 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.
- Super Class
- X-linked monogenic disease epilepsy
External Links
- Disease Ontology
- DOID:0112122
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
