Below is a summary for the KDM6B gene observed in research publications. This is not meant to take the place of medical advice.

What is KDM6B-related syndrome?

KDM6B-related syndrome happens when there are changes to the KDM6B gene. These changes can keep the gene from working as it should.

Key Role

The KDM6B gene helps control other genes during brain development.


Because the KDM6B gene is important in the development and function of brain cells, many people who have KDM6B-related syndrome have:

  • Intellectual disability
  • Developmental delay
  • Autism

Do people who have KDM6B-related syndrome look different?

People who have KDM6B-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Noticeable bridge of nose
  • Wide hands

Fingers or toes that are webbed or joined, also called syndactyly.

How many people have KDM6B-related syndrome?

As of 2020, doctors had described about 12 people in the world with changes in the KDM6B gene. The first case of KDM6B-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


Almost one-half have an intellectual disability. (5/11)


One-half have autism. (6/12)


Everyone studied to date that has KDM6B-related syndrome has language delay. (11/11)

Learn more about the KDM6B gene and connect with other Simons Searchlight families with the resources below:


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 are currently no GeneReviews for KDM6B.


Research Article Summaries

We currently do not have any article summaries for KDM6B, but we add resources to our website as they become available.

The information available about KDM6B 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.

  • Stolerman ES. et al. American Journal of Medical Genetics Part A, 179, 1276-1286, (2019). Genetic variants in the KDM6B gene are associated with neurodevelopmental delays and dysmorphic features, pubmed.ncbi.nlm.nih.gov/31124279/.

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 KDM6B 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 KDM6B genetic changes by taking part in our research. You can learn more about the project and sign up here.


The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in KDM6B. *This study is not affiliated with Simons Searchlight. Click here to learn more about this opportunity.

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 KDM6B families:

Click here to share your family’s story!