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

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. EHMT1-related syndrome is also called Kleefstra syndrome. Kleefstra syndrome can also be caused by a larger genetic change that affects the EHMT1 gene and nearby genes.

Key Role

The EHMT1 gene helps to control other genes.


Because the EHMT1 gene is important in the development and function of brain cells, many people who have EHMT1-related syndrome have:

  • Intellectual disability and developmental delay
  • Low muscle tone
  • Speech and motor delay

Do people with EHMT1-related syndrome look different?

People who have EHMT1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Small head
  • Wide forehead
  • Fused eyebrows and widely spaced eyes
  • Epicanthal fold: a skin fold covering the inner corner of the eye
  • Short nose and low bridge of nose
  • Changes in ear shape
  • Tented upper lip


Everyone studied to date that has EHMT1-related syndrome has intellectual disability or developmental delay.

Muscle Tone

60 to 80 percent have low muscle tone.


65 to 70 percent have behavior issues.


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.


Family Stories

We do not currently have any stories from EHMT1 families.

Click here to share your family’s story!