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.

Key Role

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
  • Autism
  • Repeated hand movements
  • Seizures
  • 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.


Support Resources



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. Check out the GeneReviews for CASK.


Research Article Summaries

We currently do not have any article summaries for CASK, but we add resources to our website as they become available. The information available about CASK 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 CASK 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 CASK genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from CASK families:

Click here to share your family’s story!