CSDE1

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 the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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.

Symptoms

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

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.

Speech

Language delay was common in one study of people who have CSDE1-related syndrome.

Learning

People who had CSDE1-related syndrome often had intellectual disability.

Motor concerns

15 out of 17 had motor delay.

Support Resources

Simons Searchlight Community – CSDE1 Facebook group
Geisinger Developmental Brain Disorder Gene Database – CSDE1

GeneReviews

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!