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 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 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

Do people who have KMT5B -related syndrome look different?

People who have KMT5B -related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Broad forehead
  • Long, oval face

All four participants in one study had some level of intellectual disability.


Two out of four participants in the study had autism.


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!