Below is a summary of SETBP1 haploinsufficiency disorder observed in research publications. This is not meant to take the place of medical advice.

Latest Quarterly Report | Download Report

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 SETBP1 haploinsufficiency disorder?

SETBP1 haploinsufficiency disorder happens when there are changes to the SETBP1 gene. These changes can keep the gene from working as it should.

Genetic variants in SETBP1 can cause other conditions, including Schinzel-Giedion syndrome and SETBP1-related disorders. The information below focuses on genetic variants that lead to SETBP1 haploinsufficiency disorder.

Key Role

The SETBP1 gene is important for the function and development of brain cells.


Because the SETBP1 gene is important for the brain, some people may have:

  • Autism
  • Intellectual disability
  • Attention deficit hyperactivity disorder, also called ADHD
  • Low muscle tone
  • Seizures
  • Sleep problems
  • Vision problems, often requiring glasses
  • Speech issues
  • Developmental delay
  • Behavior issues

Do people who have SETBP1 haploinsufficiency disorder look different?

People with SETBP1 haploinsufficiency disorder may look different. Appearance can vary and can include some but not all of these features:

  • Long chin
  • Longer than average face
  • Long, narrow head shape, front to back
  • Flat back of the head
  • Thin upper lip

How many people have SETBP1 haploinsufficiency disorder?

As of 2022, about 142 people with SETBP1 haploinsufficiency disorder have been identified in a medical clinic.


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.

Check out the GeneReviews for SETBP1 halpoinsufficiency disorder.



Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 SETBP1 Virtual Conference

Simons Searchlight Family & Research Conference 2020 SETBP1 Virtual Conference


Research Article Summaries

Below, we have summarized research articles about changes in the SETBP1 gene. We hope you find this information helpful. The information available about SETBP1 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 SETBP1 articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies Original research article by R. Acuna-Hidalgo et al. (2017). Read the abstract here and the Simons Searchlight summary here.
  • Refining analyses of copy number variation identifies specific genes associated with developmental delay Original research article by B.P. Coe et al. (2014). Read the abstract here and the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SETBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.


The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in SETBP1. Click here to learn more about this opportunity.

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 SETBP1 families:

Click here to share your family’s story!