Below is a summary for the EHMT1 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full EHMT1 Gene Guide

The online Gene Guide includes more information about EHMT1 such as the chance of having another child with this condition, behavior and development concerns linked to EHMT1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

EHMT1-related syndrome is also called Kleefstra syndrome 1. For this webpage, we will be using the name EHMT1-related syndrome to encompass the wide range of variants observed in the people identified.

What is EHMT1-related syndrome?

EHMT1-related syndrome happens when there are changes to the EHMT1 gene. These changes can keep the gene from working as it should.

Key Role

The EHMT1 gene plays a role in modifying the shape of chromosomes. Chromosomes are the structures that house DNA within our cells. By modifying the chromosome, the EHMT1 enzyme can turn other genes on or off.


Because the EHMT1 gene is important in controlling gene expression, many people who have EHMT1-related syndrome have:

  • Intellectual disability
  • Autism or features of autism
  • Speech delay
  • Seizures
  • Sleep difficulties
  • Behavior issues, such as aggression and obsessive compulsive disorder
  • Obesity
  • Heart and/or kidney defects
  • Hearing loss
  • Vision issues
  • Recurrent respiratory infections
  • Genital defects in males
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Extreme lack of interest or lack of movement and communication, which happens after puberty

How many people have EHMT1-related syndrome?

As of 2024, at least 183 people with EHMT1-related syndrome have been identified in a medical clinic. The first case of EHMT1-related syndrome was described in 2006.


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 EHMT1.


Research Article Summaries

We currently do not have any article summaries for EHMT1, but we add resources to our website as they become available.

The information available about EHMT1 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 EHMT1 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 EHMT1 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

We do not currently have any stories from EHMT1 families.

Click here to share your family’s story!