USP9X

The information for this summary of USP9X-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full USP9X Gene Guide

The online Gene Guide includes more information about USP9X such as the chance of having another child with this condition, behavior and development concerns linked to USP9X-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

USP9X-related syndrome is also called intellectual developmental disorder, X-linked 99. For this webpage, we will be using the name USP9X-related syndrome to encompass the wide range of variants observed in the people identified.

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.

Symptoms

Because the USP9X gene is important for brain activity, many people who have USP9X-related syndrome have:

  • Intellectual disability
  • Short height
  • Language impairment
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Feeding difficulties

How many people who have USP9X-syndrome?

As of 2024, at least 110 people with USP9X-related syndrome have been identified in a medical clinic.

Learn more about the USP9X gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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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.

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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.

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Family Stories

We do not currently have any stories from USP9X families.

Click here to share your family’s story!