KMT2E

Below is a summary for the KMT2E gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full KMT2E Gene Guide

The online Gene Guide includes more information about KMT2E such as the chance of having another child with this condition, behavior and development concerns linked to KMT2E-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

KMT2E-related syndrome is also called KMT2E-related neurodevelopmental disorder. For this webpage, we will be using the name KMT2E-related syndrome to encompass the wide range of variants observed in the people identified.

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What is KMT2E-related syndrome?

KMT2E-related syndrome happens when there are changes in the KMT2E gene. These changes can keep the gene from working as it should.

Key Role

The KMT2E gene plays a key role in the development of the brain, heart, and eyes.

Symptoms

Because the KMT2E gene is important for brain activity, many people who have KMT2E-related syndrome have:

Developmental delay, or intellectual disability, or both
Autism spectrum disorder or features of autism
Low muscle tone, also called hypotonia
Seizures
Speech delay
Large head size, also called macrocephaly
Small head size, also called microcephaly
Sleep issues
Behavioral issues, including self-injury behaviors, anxiety, aggression, and sensory issues
Gastrointestinal issues
Brain changes seen on magnetic resonance imaging (MRI)

How many people have KMT2E-related syndrome?

As of 2025, more than 120 people with KMT2E-related syndrome have been identified in medical research.

Support Resources

Simons Searchlight Community – KMT2E Facebook group
KMT2E (ODLUR) private family Facebook group – KMT2E private family group
Geisinger Developmental Brain Disorder Gene Database – KMT2E

GeneReviews

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 KMT2E.

Research Article Summaries

We currently do not have any article summaries for KMT2E, but we add resources to our website as they become available.

The information available about KMT2E 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 KMT2E 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 KMT2E 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.