Below is a summary for the SYNGAP1 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SYNGAP1 such as the chance of having another child with this condition, behavior and development concerns linked to SYNGAP1 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is SYNGAP1 -related Syndrome?
SYNGAP1 -related syndrome happens when there are changes to the SYNGAP1 gene. These changes can keep the gene from working as it should.
The SYNGAP1 gene plays a key role in the development and function of the brain. It makes a protein that helps to control brain activity. When one copy of the SYNGAP1 gene is not working properly, the brain may become overactive.
Because the SYNGAP1 gene controls brain activity, changes in this gene can be linked to seizures and other challenges. SYNGAP1 -related syndrome can affect the development of communication, social, and learning skills. Many people who have SYNGAP1 -related syndrome have:
- Developmental delay, or intellectual disability, or both
- Hyperactivity and sleep problems
- Autism or features of autism
- Joint and spine issues
- Low muscle tone
Research Article Summaries
Previous Registry Reports