ARHGEF9

The information for this summary of ARHGEF9-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full ARHGEF9 Gene Guide

The online Gene Guide includes more information about ARHGEF9 such as the chance of having another child with this condition, behavior and development concerns linked to ARHGEF9-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

ARHGEF9-related syndrome is also called developmental and epileptic encephalopathy 8. For this webpage, we will be using the name ARHGEF9-related syndrome to encompass the wide range of variants observed in the people identified.

What is ARHGEF9-related syndrome?

ARHGEF9-related syndrome happens when there are changes in 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.

Symptoms

Because the ARHGEF9 gene is important for brain activity, many people who have ARHGEF9-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Epilepsy
  • Changes in facial features
  • Brain changes observed on magnetic resonance imaging (MRI)
  • Autism
  • Hyperactivity
  • Impulsivity

How many people have ARHGEF9-related syndrome?

As of 2024, about 57 people with ARHGEF9-related syndrome have been identified in a medical clinic.

Learn more about the ARHGEF9 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 ARHGEF9.

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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.

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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.

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Family Stories

We do not currently have any stories from ARHGEF9 families.

Click here to share your family’s story!