Below is a summary for the KMT5B gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full KMT5B Gene Guide

The online Gene Guide includes more information about KMT5B such as the chance of having another child with this condition, behavior and development concerns linked to KMT5B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is KMT5B-related syndrome?

KMT5B-related syndrome happens when there are changes to the KMT5B gene. These changes can keep the gene from working as it should.

Key Role

The KMT5B gene plays a key role in brain development.


Because the KMT5B gene is important in the development and function of brain cells, many people who have KMT5B-related syndrome have:

  • Intellectual disability
  • Autism

How many people have KMT5B-related syndrome?

As of 2019, doctors had found about a dozen people in the world with changes in the KMT5B gene. The first case of KMT5B-related syndrome was described in 2012. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


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 KMT5B.


Research Article Summaries

We currently do not have any article summaries for KMT5B, but we add resources to our website as they become available. The information available about KMT5B 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 KMT5B 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 KMT5B 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 KMT5B families:

Click here to share your family’s story!