NRXN2
The information for this summary of NRXN2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full NRXN2 Gene Guide
The online Gene Guide includes more information about NRXN2 such as the chance of having another child with this condition, behavior and development concerns linked to NRXN2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is NRXN2-related syndrome?
NRXN2-related syndrome happens when there are changes in the NRXN2 gene. These changes can keep the gene from working as it should.
Key Role
The NRXN2 gene plays an important role in brain cell function and in communication between brain cells.
Symptoms
Because the NRXN2 gene is important for brain activity, some people who have NRXN2-related syndrome may have:
- Autism
- Language delay
- Developmental delay
- Intellectual disability
- Epilepsy
How many people have NRXN2-related syndrome?
As of 2025, over 10 people with NRXN2-related syndrome have been described in medical research.
Support Resources
- Simons Searchlight Community – NRXN2 Facebook group
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 is currently no GeneReviews for NRXN2.
Research Article Summaries
We currently do not have any article summaries for NRXN2, but we add resources to our website as they become available.
The information available about NRXN2 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.
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 NRXN2 articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about NRXN2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from NRXN2 families.
Click here to share your family’s story!