Below is a summary for the NBEA gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

What is NBEA-related syndrome?

NBEA-related syndrome happens when there are changes to the NBEA gene. These changes can keep the gene from working as it should.

Key Role

The NBEA gene plays a key role in the communication that happens between brain cells.


Because the NBEA gene is important in brain function, many people who have NBEA-related syndrome have:

  • Developmental delay
  • Autism
  • Seizures
  • Small head size

Do people who have NBEA-related syndrome look different?

In general, people who have NBEA-related syndrome don’t look very different. Some people, less than 20 percent, have a smaller than average head size.


Speech delay is very common in people who have this syndrome.


24 out of 24 have some level of developmental delay or intellectual disability.


Nearly one third of people who have this syndrome have behavior issues including aggression, attention deficit hyperactivity disorder (ADHD), and autism.


Support Resources

  • Simons Searchlight CommunityNBEA Facebook group
  • Geisinger Developmental Brain Disorder Gene Database – NBEA


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 NBEA.


Research Article Summaries

We currently do not have any article summaries for NBEA, but we add resources to our website as they become available.

The information available about NBEA 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 NBEA 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 NBEA 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 NBEA families.

Click here to share your family’s story!