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 neurodevelopmental disorder?
KDM6B-related neurodevelopmental disorder happens when there are changes to the KDM6B gene. These changes can keep the gene from working as it should.
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 neurodevelopmental disorder have:
- Intellectual disability
- Developmental delay
- Motor delays
- Speech and language delays
- Gastrointestinal reflux and feeding issues
Do people who have KDM6B-related neurodevelopmental disorder look different?
People who have KDM6B-related neurodevelopmental disorder may look different. Appearance can vary and can include some but not all of these features:
- Lower than average muscle tone
- Unusually large range of movement in joints
- Wide hands or feet
- Noticeable bridge of nose
- Fingers or toes that are webbed or joined, also called syndactyly
How many people have KDM6B-related neurodevelopmental disorder?
As of 2023, doctors had described about 97 people in the world with changes in the KDM6B gene. The first case of KDM6B-related neurodevelopmental disorder was described in 2019.
Over half have intellectual disability (63%, or 40 out of 64 people).
Over half have autism (61%, or 46 out of 76 people).
Almost everyone with KDM6B has language delay (94%, or 72 out of 77 people).
Learn more about the KDM6B gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries