The information for this summary of KDM3B-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full KDM3B Gene Guide

The online Gene Guide includes more information about KDM3B such as the chance of having another child with this condition, behavior and development concerns linked to KDM3B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

KDM3B-related syndrome is also called Diets-Jongmans syndrome. For this webpage, we will be using the name KDM3B-related syndrome to encompass the wide range of variants observed in the people identified.

What is KDM3B-related syndrome?

KDM3B-related syndrome happens when there are changes to the KDM3B gene. These changes can keep the gene from working as it should.

Key Role

The KDM3B gene plays a role in brain development.


Because the KDM3B gene is important in brain development and function, many people who have KDM3B-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Autism
  • Motor delays
  • Speech delays
  • Attention deficit hyperactivity disorder, or ADHD
  • Lower than average muscle tone

How many people have KDM3B-related syndrome?

As of 2024, at least 27 people with KDM3B-related syndrome have been identified in a medical clinic. The first case of KDM3B-related syndrome was described in 2019.


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 KDM3B.


Research Article Summaries

We currently do not have any article summaries for KDM3B, but we add resources to our website as they become available.

The information available about KDM3B 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 KDM3B articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about KDM3B genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from KDM3B families:

Click here to share your family’s story!