Below is a summary for the SETD2 gene observed in research publications. This is not meant to take the place of medical advice.
What is SETD2-related syndrome?
SETD2-related syndrome happens when there are changes to the SETD2 gene. These changes can keep the gene from working as it should.
The SETD2 gene controls the activity of other genes and is important for brain function.
Because the SETD2 gene is important in the development and function of brain cells, many people who have SETD2-related syndrome have:
- Intellectual disability
- Speech delay
- Larger head size
Do people who have SETD2-related syndrome look different?
Some people who have SETD2-related syndrome may have a large head.
Research Article Summaries