Below is a summary for the CSDE1 gene observed in research publications. This is not meant to take the place of medical advice.
What is CSDE1-related syndrome?
CSDE1-related syndrome happens when there are changes to the CSDE1 gene. These changes can keep the gene from working as it should.
The CSDE1 gene controls the activity of other genes that are important for brain growth.
Because the CSDE1 gene is important in the development and function of brain cells, many people who have CSDE1-related syndrome have:
- Intellectual disability
- Language and motor delay
- Large brain
- Changes in the eyes
Do people who have CSDE1-related syndrome look different?
People who have CSDE1-related syndrome do not look very different. In one study of 14 people, 6 had a larger than average head size.
Research Article Summaries