Below is a summary for the IRF2BPL gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full IRF2BPL Gene Guide

The online Gene Guide includes more information about IRF2BPL such as the chance of having another child with this condition, behavior and development concerns linked to IRF2BPL-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

Latest Quarterly Report | Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on the global geographical distribution of families.

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is IRF2BPL-related syndrome?

IRF2BPL-related syndrome happens when there are changes to the IRF2BPL gene. These changes can keep the gene from working as it should.

Key Role

The IRF2BPL gene plays a key role in brain cell function.


Because the IRF2BPL gene is important in the development and function of brain cells, many people who have IRF2BPL-related syndrome have:

  • Seizures
  • Movement issues, such as dystonia, a condition in which muscles contract uncontrollably, and ataxia, a condition that causes uncoordinated movement.
  • In some cases, loss of motor skills.

How many people have IRF2BPL-related syndrome?

As of 2019, about 20 people in the world with changes in the IRF2BPL gene had been described in the medical literature. The first case of IRF2BPL-related syndrome was described in 2018. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


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. There is currently no GeneReviews for  IRF2BPL .


Research Article Summaries

We currently do not have any article summaries for IRF2BPL, but we add resources to our website as they become available. The information available about IRF2BPL 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 IRF2BPL 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 IRF2BPL genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from IRF2BPL  families:

Click here to share your family’s story!