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.
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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.
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.
Research Article Summaries