The information for this summary of CIC-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full CIC gene guide

The online Gene Guide includes more information about CIC such as the chance of having another child with this condition, behavior and development concerns linked to CIC-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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.

Key Role

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
  • Autism
  • Developmental delay
  • Developmental regression
  • Poor speech
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)

How many people have CIC-related syndrome?

As of 2024, at least 49 people with CIC-related syndrome have been identified in the medical literature.

Learn more about CIC and connect with other Simons Searchlight families with the resources below.


Support Resources

  • Simons Searchlight Community – CIC Facebook group
  • Geisinger Developmental Brain Disorder Gene Database – CIC


GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for CIC.


Research Article Summaries

We currently do not have any article summaries for CIC, but we add resources to our website as they become available.

The information available about CIC is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CIC articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CIC genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from CIC families.

Click here to share your family’s story!