EBF3

Below is a summary for the EBF3 gene observed in research publications. This is not meant to take the place of medical advice.

Access the 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.

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
Certain facial features, including a triangular face
Autism, or attention deficit hyperactivity disorder, also called ADHD, or both

Support Resources

Simons Searchlight Community – EBF3 Facebook group
EBF3 HADDS Foundation website – hadds.org – EBF3 HADDS Foundation – Facebook page – EBF3 HADDS Foundation – Twitter
Geisinger Developmental Brain Disorder Gene Database – EBF3

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 EBF3 .

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.

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.

Family Stories

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

Sources and References

Harms FL. et al. American Journal of Human Genetics, 100, 117-127, (2017). Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism www.cell.com/ajhg/fulltext/S0002-9297(16)30490-6
Tanaka AJ. et al. Cold Spring Harbor Molecular Case Studies, a002097, 3, (2017). De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism www.molecularcasestudies.cshlp.org/content/3/6/a002097.long