Below is a summary for the CIC gene observed in research publications. This is not meant to take the place of medical advice.
What is CIC-related syndrome?
CIC-related syndrome happens when there are changes to the CIC gene. These changes can keep the gene from working as it should.
The CIC gene helps control other genes in the cell.
Because the CIC gene is important in the development and function of brain cells, many people who have CIC-related syndrome have:
- Intellectual disability and developmental disability
Do people with CIC-related syndrome look different?
People who have CIC-related syndrome do not look different.
Everyone in the study that has CIC-related syndrome has developmental delay or intellectual disability.
Some people have autism or attention deficit hyperactivity disorder, known as ADHD.
Some people who have CIC-related syndrome have seizures or changes in the structure of the brain that were detectable by a medical test known as magnetic resonance imaging.
Learn more about CIC and connect with other Simons Searchlight families with the resources below.
Research Article Summaries