NLGN2
The information for this summary of NLGN2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full NLGN2 Gene Guide
The online Gene Guide includes more information about NLGN2 such as the chance of having another child with this condition, behavior and development concerns linked to NLGN2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
NLGN2-related syndrome is also called NLGN2-related neurodevelopmental disorder. For this webpage, we will be using the name NLGN2-related syndrome to encompass the wide range of variants observed in the people identified.
What is NLGN2-related syndrome?
NLGN2-related syndrome happens when there are changes in the NLGN2 gene. These changes can keep the gene from working as it should.
Key Role
The NLGN2 gene plays an important role in the development of connections in the brain.
Symptoms
Because the NLGN2 gene is important for brain activity, many people who have NLGN2-related syndrome have:
- Autism
- Lower than average muscle tone
- Developmental delay
- Intellectual disability
- Obsessive-compulsive disorder
- Anxiety
- Aggression
- Seizures
- Obesity
- Schizophrenia
How many people have NLGN2-related syndrome?
As of 2025, about 32 people with a genetic variant in the NLGN2 gene have been identified in medical research. This includes people who have a genetic variant of uncertain significance.
Support Resources
- Simons Searchlight Community – NLGN2 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 NLGN2.
Research Article Summaries
We currently do not have any article summaries for NLGN2, but we add resources to our website as they become available.
The information available about NLGN2 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 NLGN2 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 NLGN2 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 NLGN2 families.
Click here to share your family’s story!