RFX3

The information for this summary of RFX3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full RFX3 Gene Guide

The online Gene Guide includes more information about RFX3 such as the chance of having another child with this condition, behavior and development concerns linked to RFX3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is the RFX3 gene?

RFX3-related syndrome happens when there are changes in the RFX3 gene. These changes can keep the gene from working as it should.

Key Role

The RFX3 gene plays a role in human development.

Symptoms

Because the RFX3 gene is important for brain activity, many people who have RFX3-related syndrome have:

  • Intellectual disability
  • Seizures
  • Autism
  • Attention-deficit/hyperactivity disorder (ADHD)
  • Larger than average head size, also called macrocephaly
  • Smaller than average head size, also called microcephaly

How many people have a de novo gene change in RFX3?

As of 2024, at least 19 people with RFX3-related syndrome have been described in medical research.

Learn more about the RFX3 gene and connect with other Simons Searchlight families with the resources below:

+

Support Resources

+

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 RFX3.

+

Research Article Summaries

We currently do not have any article summaries for RFX3, but we add resources to our website as they become available.

The information available about RFX3 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 RFX3 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 RFX3 genetic changes by taking part in our research. You can learn more about the project and sign up here.

+

Family Stories

We do not currently have any stories from RFX3 families.

Click here to share your family’s story!