Entity Details
Details
PrimaryID | 27286 |
RefseqGene | NG_021337 |
Symbol | SRPX2 |
Name | sushi repeat containing protein X-linked 2 |
Chromosome | X |
Location | Xq22.1 |
TaxID | 9606 |
Status | live |
SourceGenome | genomic |
SourceOrigin | natural |
CreationDate | 2000-01-25 |
ModificationDate | 2021-06-11 |
Diseases
Show/Hide Table
Disease ID | Source | Name | Description |
300643 | OMIM | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) | A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and mental retardation. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention. The disease may be caused by variants affecting the gene represented in this entry. |
Interactions
4 interactions