FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked epilepsy with variable learning disabilities and behavior disorders ID (Ontology) DOID:0112122 (Human Disease)
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.
Also Known As "X-linked epilepsy-learning disabilities-behavior disorders syndrome"
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 X-linked epilepsy with variable learning disabilities and behavior disorders       1
 for disease ribbon | X-linked epilepsy with variable learning disabilities and behavior disorders       1
 model of | X-linked epilepsy with variable learning disabilities and behavior disorders       1
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monogenic disease
 |__X-linked monogenic disease__
brain disease                   |
 |__epilepsy____________________|
                                X-linked epilepsy with variable learning disabilities and behavior disorders  1 rec.
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Is a X-linked monogenic disease
epilepsy
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Synonyms
  • "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT
Secondary IDs
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MESH:C564505
MIM:300491
ORDO:85294
UMLS_CUI:C1845343