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.
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.
Research Article Summaries