Below is a summary for the BRSK2 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 BRSK2-Related Syndrome?
BRSK2-related syndrome happens when there are changes to the BRSK2 gene. These changes can keep the gene from working as it should.
The BRSK2 gene plays a key role in brain development.
Because the BRSK2 gene is important in the development and function of brain cells, many people who have BRSK2-related syndrome have:
- Developmental delay
- Intellectual disability
- Motor delay
Do people who have BRSK2-related syndrome look different?
People who have BRSK2-related syndrome do not look very different.
Most have mild to severe intellectual disability.
SPEECH and BEHAVIOR
9 out of 9 had issues with speech.
8 out of 9 had autism.
Research Article Summaries