SNAP25
The information for this summary of SNAP25-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full SNAP25 Gene Guide
The online Gene Guide includes more information about SNAP25 such as the chance of having another child with this condition, behavior and development concerns linked to SNAP25-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
SNAP25-related syndrome is also called developmental and epileptic encephalopathy 117 (DEE117). For this webpage, we will be using the name SNAP25-related syndrome to encompass the wide range of variants observed in the people identified.
What is SNAP25-related syndrome?
SNAP25-related syndrome happens when there are changes in the SNAP25 gene. These changes can keep the gene from working as it should.
Key Role
The SNAP25 gene plays a key role in the function and communication of brain cells.
Symptoms
Because the SNAP25 gene is important for brain activity, many people who have SNAP25-related syndrome have:
- Developmental delay
- Intellectual disability
- Seizures
- Autism spectrum disorder or features of autism
- Movement problems
- Speech impairment
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
- Vision issues
- Feeding challenges
How many people have SNAP25-related syndrome?
As of 2026, about 32 people with SNAP25-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Facebook Group –
- SNAP25 Foundation – https://snap25.org/
- SFARI Gene – SNAP25
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
There are currently no GeneReviews for SNAP25.
Research Article Summaries
We currently do not have any article summaries for SNAP25, but we add resources to our website as they become available.
The information available about SNAP25 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about SNAP25 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.
Family Stories
We do not currently have any stories from SNAP25 families.
Click here to share your family’s story!