Below is a summary for the KDM5B gene observed in research publications. This is not meant to take the place of medical advice.

What is KDM5B-related syndrome?

KDM5B-related syndrome happens when there are changes to both copies of the KDM5B gene. These changes can keep the gene from working as it should.

Key Role

The KDM5B gene plays an important role in human development.


Because the KDM5B gene is important for the proper function of the body’s cells, some people may have:

  • Heart defects
  • Difficulty feeding
  • Global development delay
  • Intellectual disability
  • Speech difficulty
  • Issue with walking
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Learning challenges

Do people who have KDM5B-related syndrome look different?

People with KDM5B-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Rounded end of the nose
  • Thinner than average lips
  • Longer than average head shape
  • Droopy eyelids
  • Eyes that are not aligned

How many people have KDM5B-related syndrome?

As of 2022, about 13 people with KDM5B-related syndrome have been described in medical research.


Support Resources


Research Article Summaries

We currently do not have any article summaries for KDM5B, but we add resources to our website as they become available.

The information available about KDM5B 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 KDM5B 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 KDM5B 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 KDM5B families:

Click here to share your family’s story!