Below is a summary for the ARHGEF9 gene observed in research publications. This is not meant to take the place of medical advice.

What is ARHGEF9-related syndrome?

ARHGEF9-related syndrome happens when there are changes to the ARHGEF9 gene. These changes can keep the gene from working as it should.

Key Role

The ARHGEF9 gene plays a key role in the communication that takes place between brain cells.


Because the ARHGEF9 gene is important in the function of brain cells, many people who have ARHGEF9-related syndrome have:

  • Intellectual disability
  • Epilepsy
  • Changes in facial features

Do people who have ARHGEF9-related syndrome look different?

People who have ARHGEF9-related syndrome may look different. The differences are often more noticeable in males. Appearance can vary and can include some but not all of these features:

  • Large, fleshy earlobes
  • Large jaw, also called prognathism
  • A sunken appearance in the middle of the face, also called midface hypoplasia

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.

Check out the GeneReviews for ARHGEF9.


Research Article Summaries

We currently do not have any article summaries for ARHGEF9, but we add resources to our website as they become available.

The information available about ARHGEF9 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 ARHGEF9 articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about ARHGEF9 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 ARHGEF9 families.

Click here to share your family’s story!