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 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.

Latest HIVEP2 Report | Download Report

The latest Simons Searchlight report includes updated information on your genetic community and analyzes developmental growth charts based on the Vineland Adaptive Behavior Scales (Vineland-3) survey. This data shows skills at different ages and helps doctors and researchers understand how these skills change over time. Watch our short video to understand the charts better.

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 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.

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

Do people who have HIVEP2 -related syndrome look different?

People who have HIVEP2 -related syndrome may look different. Appearance can vary and can include these features:

  • High forehead
  • Wide-set eyes


Most people have speech impairments.


Most have moderate to severe intellectual disability.


Some people have hyperactivity, impulsivity, or concentration problems.


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

Simons Searchlight Family & Research Conference 2020 HIVEP2 Virtual Conference


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!