Below is a summary for the HIVEP2 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full HIVEP2 Gene Guide

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.

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The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on the global geographical distribution of families.

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly 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.

Key Role

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.


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 HIVEP2.



Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 HIVEP2 Virtual Conference

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Simons Searchlight Family & Research Conference 2020 HIVEP2 Virtual Conference

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Research Article Summaries

Below, we have summarized research articles about changes in the HIVEP2 gene. We hope you find this information helpful. The information available about HIVEP2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 HIVEP2 articles can be found here.

  • Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features Original research article by H. Steinfield et al. (2016). Read the article here and the Simons Searchlight summary here.
  • Loss-of-function variants in HIVEP2 are a cause of intellectual disability Original research article by S. Srivastava et al. (2016). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about HIVEP2 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from HIVEP2 families:

Click here to share your family’s story!