NBEA

The information for this summary of NBEA-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full NBEA Gene Guide

The online Gene Guide includes more information about NBEA-related syndrome such as the chance of having another child with this condition, behavior and development concerns linked to NBEA-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

NBEA-related syndrome is also called NBEA-related neurodevelopmental disorder. For this webpage, we will be using the name NBEA-related syndrome to encompass the wide range of variants observed in the people identified.

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.

Symptoms

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

  • Developmental delay
  • Intellectual disability
  • Autism
  • Seizures
  • Small head size
  • Behavioral issues, such as aggression and attention-deficit/hyperactivity disorder (ADHD)

How many people have NBEA-related syndrome?

As of 2024, at least 53 people with NBEA-related syndrome have been identified in a medical clinic. The first case of NBEA-related syndrome was described in 2003. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Learn more about the NBEA gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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

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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.

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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.

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Family Stories

We do not currently have any stories from NBEA families.

Click here to share your family’s story!