Below is a summary for the CSDE1 gene observed in research publications. This is not meant to take the place of medical advice.

Click here for our full CSDE1 Gene Guide

The online Gene Guide includes more information about CSDE1 such as the chance of having another child with this condition, behavior and development concerns linked to CSDE1-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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.

Key Role

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:

  • Autism
  • Intellectual disability
  • Language and motor delay
  • Seizures
  • Large brain
  • Changes in the eyes

How many people have CSDE1-related syndrome?

As of 2019, about 20 people in the world with changes in the CSDE1 gene had been described in medical research. The first case of CSDE1-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.


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.

There is currently no GeneReviews for CSDE1.


Research Article Summaries

We currently do not have any article summaries for CSDE1, but we add resources to our website as they become available.

The information available about CSDE1 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 CSDE1 articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CSDE1 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 CSDE1 families.

Click here to share your family’s story!