Below is a summary for the CASK gene observed in research publications. This is not meant to take the place of medical advice.
What is CASK-related syndrome?
CASK-related syndrome happens when there are changes to the CASK gene. These changes can keep the gene from working as it should.
The CASK gene plays a key role in the development of the brain and the function of brain cells. It’s especially important in controlling the connections between brain cells.
Because the CASK gene is important in the development and function of brain cells, many people who have CASK-related syndrome have:
- Intellectual disability
- Small head size
- Motor difficulties or movement disorders
- Speech difficulties
- Repeated hand movements
- Repetitive eye movements, also called nystagmus
Do people who have CASK-related syndrome look different?
Some people who have CASK-related syndrome may have a small head.
Research Article Summaries