Below is a summary for the HIVEP2 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about HIVEP2 such as the chance of having another child with this condition, behavior and development concerns linked to HIVEP2-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 HIVEP2-related disorder 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 HIVEP2-related syndrome?
HIVEP2-related syndrome happens when there are changes to the HIVEP2 gene. These changes can keep the gene from working as it should.
The HIVEP2 gene plays a key role in the growth of the brain.
Because the HIVEP2 gene is important in the growth of the brain, many people who have HIVEP2-related syndrome have:
- Intellectual disability
- Behavior issues
- Low muscle tone
How many people have HIVEP2-related syndrome?
As of 2019, about 10 people in the world with changes in the HIVEP2 gene had been described in the medical literature. The first case of HIVEP2-related syndrome was described in 2015. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Research Article Summaries
Previous Registry Reports