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SYNGAP1

The information for this summary of SYNGAP1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here to view the full SYNGAP1 Gene Guide

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.

SYNGAP1-related syndrome is also called SYNGAP1-related intellectual disability (SYNGAP1-ID) or intellectual developmental disorder, autosomal dominant 5. For this webpage, we will be using the name SYNGAP1-related syndrome to encompass the wide range of variants observed in the people identified.

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View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is SYNGAP1-related Syndrome?

SYNGAP1–related syndrome happens when there are changes in the SYNGAP1 gene. These changes can keep the gene from working as it should.

Key Role

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.

Symptoms

Because SYNGAP1 is important in brain activity, many people who have SYNGAP1-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Seizures
  • Autism
  • Small head size
  • Eye defects like crossed eyes
  • Excess body hair, specifically on the limbs and lower spine
  • Constipation

How many people have SYNGAP1-related syndrome?

As of 2024, at least 388 people with SYNGAP1-related syndrome have been identified in a medical clinic. The first case of SYNGAP1-related syndrome was described in 2015.

Learn more about the SYNGAP1 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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Research Article Summaries

Below, we have summarized research articles about changes in the SYNGAP1 gene. We hope you find this information helpful. The information available about SYNGAP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for SYNGAP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • SYNGAP1: Mind the Gap Original research article by N. Jeyabalan and J.P. Clement (2016). Read the article here and the Simons Searchlight summary here.
  • De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability Original research article by M.J. Parker et al. (2015). Read the article here and the Simons Searchlight summary here.
  • Recurrent de novo mutations implicate novel genes underlying simplex autism risk Original research article by B.J. O’Roak et al. (2014). Read the article here and the Simons Searchlight summary here.
  • Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: A retrospective study Original research article by D.A. Dyment et al. (2014). Read the abstract here and the Simons Searchlight summary here.
  • A polygenic burden of rare disruptive mutations in schizophrenia Original research article by S.M. Purcell et al. (2014). Read the article here and the Simons Searchlight Summary here.
  • Clinical whole-exome sequencing for the diagnosis of Mendelian disorders Original research article by Y. Yang et al. (2013). Read the abstract here and the Simons Searchlight summary here.
  • Mutations in SYNGAP1 cause intellectual disability, autism and a specific form of epilepsy by inducing haploinsufficiency Original research article by M.H. Berryer et al. (2013). Read the abstract here and the Simons Searchlight summary here.
  • Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study Original research article by A. Rauch et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia Original research article by B. Xu et al. (2012). Read the abstract here and the Simons Searchlight summary here.
  • A de novo paradigm for mental retardation (please note: “mental retardation” is out-of-date terminology; we now use the term “intellectual disability”) Original research article by L.E. Vissers et al. (2010). Read the abstract here and the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SYNGAP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

Stories from  SYNGAP1  families:

Click here to share your family’s story!

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Previous Quarterly Reports