Below is a summary for the IRF2BPL gene observed in research publications. This is not meant to take the place of medical advice.
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.
This latest report includes updated information about Simons Searchlight participants with IRF2BPL-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry 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.
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:
- 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.
Research Article Summaries
Previous Registry Reports