ITSN1
The information for this summary of ITSN1-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full ITSN1 Gene Guide
The online Gene Guide includes more information about ITSN1 such as the chance of having another child with this condition, behavior and development concerns linked to ITSN1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is ITSN1-related syndrome?
ITSN1-related syndrome happens when there are changes in the ITSN1 gene. These changes can keep the gene from working as it should.
Key Role
The ITSN1 gene plays a key role in the function and communication of brain cells.
Symptoms
Because the ITSN1 gene is important for brain activity, many people who have ITSN1-related syndrome have:
- Developmental delay
- Intellectual disability
- Seizures
- Autism spectrum disorder or features of autism
- Speech impairment
- Low muscle tone
- Vision issues
How many people have ITSN1-related syndrome?
As of 2026, about 26 people with ITSN1-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Facebook Group –
- ITSN1 Foundation – https://itsn1.org/index.html
- NDD GeneHub – ITSN1
- SFARI Gene – ITSN1 website
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 ITSN1.
Research Article Summaries
We currently do not have any article summaries for ITSN1, but we add resources to our website as they become available.
The information available about ITSN1 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 ITSN1 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 ITSN1 families.
Click here to share your family’s story!