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

Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with HIVEP2 responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”

Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.

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

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 2020 HIVEP2 Virtual Conference

  General Session 1

  General Session 2

  2019 Virtual Family Meeting Presentation Includes:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Autism and Other Neurodevelopmental Features of HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A Session

  2017 Virtual Family Meeting Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Supporting Communication Skills for Individuals with HIVEP2” – Dr. Marissa Mitchel, M.S., CCC-SLP
  • “Medical Management of Neurodevelopmental Concerns in HIVEP2 Disorder” – Dr. Siddharth Srivastiva, MD
  • Q&A session

  2016 Virtual Family Meeting Presentations Included:

  • “HIVEP2: What We Know” – Dr. Wendy Chung
  • “Dealing with Challenging Behaviors” – Dr. Cora Taylor
  • Q&A Session


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.

Family Stories

Stories from HIVEP2 families:

Click here to share your family’s story!