Below is a summary for the IRF2BPL gene observed in research publications. This is not meant to take the place of medical advice.
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.
Do people who have IRF2BPL-related syndrome look different?
People who have IRF2BPL-related syndrome do not look very different.
Research Article Summaries