Below is a summary for the KMT5B gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is KMT5B-related syndrome?
KMT5B-related syndrome happens when there are changes to the KMT5B gene. These changes can keep the gene from working as it should.
The KMT5B gene plays a key role in brain development.
Because the KMT5B gene is important in the development and function of brain cells, many people who have KMT5B-related syndrome have:
- Intellectual disability
Do people who have KMT5B-related syndrome look different?
People who have KMT5B-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Long, oval face
Research Article Summaries