Below is a summary for the USP9X gene observed in research publications. This is not meant to take the place of medical advice.

What is USP9X-related syndrome?

USP9X-related syndrome happens when there are changes to the USP9X gene. These changes can keep the gene from working as it should.

Key Role

The USP9X gene plays a key role in early growth of the brain.


Because the USP9X gene is important in the development and function of brain cells, many people who have USP9X-related syndrome have:

  • Intellectual disability
  • Short height
  • Language impairment

USP9X-related syndrome is more common in females than males.

Do people who have USP9X-syndrome look different?

People who have USP9X-related syndrome may look different. In a study of 20 females who have the syndrome, 70 percent had changes in their teeth, 65 percent had a curved spine, also known as scoliosis, and 50 percent had extra fingers.


Support Resources


Research Article Summaries

We currently do not have any article summaries for USP9X, but we add resources to our website as they become available.

The information available about USP9X 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 USP9X 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 USP9X 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

We do not currently have any stories from USP9X families.

Click here to share your family’s story!