Below is a summary for the NLGN2 gene observed in research publications. This is not meant to take the place of medical advice.

What is NLGN2-related syndrome?

NLGN2-related syndrome most often 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.


Because the NLGN2 gene is important for the brain, some people may have:

  • Autism
  • Intellectual disability
  • Obsessive compulsive disorder
  • Developmental delay
  • Obesity
  • Schizophrenia

Do people who have NLGN2-related syndrome look different?

People who have NLGN2-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Larger than average head size
  • Changes in facial features, which might not be the same in every person

How many people have NLGN2-related syndrome?

NLGN2-related syndrome is very rare. As of 2022, about 8 people in the world with NLGN2-related syndrome have been described in medical research.


Support Resources



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!