| Metadata | |
|---|---|
| ID | DOID:0112122 |
| Name | X-linked epilepsy with variable learning disabilities and behavior disorders |
| 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. https://pubmed.ncbi.nlm.nih.gov/14985377/, https://pubmed.ncbi.nlm.nih.gov/21441247/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
X-linked epilepsy-learning disabilities-behavior disorders syndrome [EXACT] |
| Parent Relationships |
is_a epilepsy |