X-linked epilepsy with variable learning disabilities and behavior disorders

Term ID

DOID:0112122

Synonyms

• 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. (2)

References

• MESH:C564505
• OMIM:300491
• ORDO:85294
• UMLS_CUI:C1845343

Ontology

Human Disease   ( DOID:0112122 )