Below is a summary for the SOX5 gene observed in research publications. This is not meant to take the place of medical advice.

What is SOX5-related Syndrome?

SOX5-related syndrome happens when there are changes to the SOX5 gene. These changes can keep the gene from working as it should.

Key Role

The SOX5 gene plays a key role in brain development.


Because the SOX5 gene is important in the development and function of brain cells, many people who have SOX5-related syndrome have:

  • Speech delay
  • Behavior issues
  • Low muscle tone
  • Motor delay
  • Developmental delay
  • Vision issues

Do people who have SOX5-related syndrome look different?

Some people who have SOX5-related syndrome have a large forehead.


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 SOX5.


Research Article Summaries

We currently do not have any article summaries for SOX5, but we add resources to our website as they become available.


The information available about SOX5 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.

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 SOX5 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 SOX5 families.

Click here to share your family’s story!