EBF3

The information for this summary of EBF3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full EBF3 Gene Guide

The online Gene Guide includes more information about EBF3 such as the chance of having another child with this condition, behavior and development concerns linked to EBF3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

EBF3-related syndrome is also called EBF3 neurodevelopmental disorder or Hypotonia, Ataxia, and Delayed Development Syndrome (HADDS). For this webpage, we will be using the name EBF3-related syndrome to encompass the wide range of variants observed in the people identified.

What is EBF3-related syndrome?

EBF3-related syndrome happens when there are changes to the EBF3 gene. These changes can keep the gene from working as it should.

Key Role

The EBF3 gene plays a key role in the growth of brain cells.

Symptoms

Because the EBF3 gene is important in the development and function of brain cells, many people who have EBF3-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Low muscle tone
  • Autism, or attention deficit hyperactivity disorder, also called ADHD, or both
  • Genitourinary defects
  • Gastrointestinal issues
  • Musculoskeletal issues

How many people have EBF3-related syndrome?

As of 2024, at least 99 people with EBF3-related syndrome have been identified in a medical clinic, and about 50 have been described in medical research. The first case of EBF3-related syndrome was described in 2017.

Learn more about the EBF3 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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. Check out the GeneReviews for EBF3.

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Research Article Summaries

We currently do not have any article summaries for EBF3, but we add resources to our website as they become available. The information available about EBF3 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 EBF3 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 EBF3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.

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Family Stories

We do not currently have any stories from EBF3 families. Click here to share your family’s story!