Below is a summary for the SETD2 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about SETD2 such as the chance of having another child with this condition, behavior and development concerns linked to SETD2 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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.
SETD2 -related syndrome is also called Luscan-Lumish syndrome.
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
Research Article Summaries