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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Sharing your information is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

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.

Do people who have IRF2BPL-related syndrome look different?

People who have IRF2BPL-related syndrome do not look very different.


Autism and developmental delay are common in people who have this type of gene change in IRF2BPL.


Four out of five people in the small study had a speech delay.



Four out of five lost some motor or verbal skills in the first years of life, which is called regression.


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!