Below is a summary for the SETD2 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.

What is SETD2-related syndrome?

SETD2-related syndrome happens when there are changes to the SETD2 gene. These changes can keep the gene from working as it should.

Key Role

The SETD2 gene controls the activity of other genes and is important for brain function.


Because the SETD2 gene is important in the development and function of brain cells, many people who have SETD2-related syndrome have:

  • Intellectual disability
  • Speech delay
  • Larger head size
  • Obesity

Do people who have SETD2-related syndrome look different?

Some people who have SETD2-related syndrome may have a large head.


People who have SETD2-related syndrome may have a larger head size and weigh more than others of the same age. This is sometimes called overgrowth.


3 out of 4 people who have SETD-related syndrome have autism. About 1 out of 2 have speech delay. Almost 1 out of 2 have intellectual disability.


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 SETD2.


Research Article Summaries

We currently do not have any article summaries for SETD2, but we add resources to our website as they become available.

The information available about SETD2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our 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 SETD5 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about SETD2 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 the SETD2 families:


Click here to share your family’s story!