The information for this summary of PPP1R9A-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full PPP1R9A Gene Guide

The online Gene Guide includes more information about PPP1R9A such as the chance of having another child with this condition, behavior and development concerns linked to PPP1R9A or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is PPP1R9A-related syndrome?

PPP1R9Arelated syndrome happens when there are changes in the PPP1R9A gene. These changes can keep the gene from working as it should.

Key Role

The PPP1R9A gene plays an important role in the development and function of brain cells.


Because the PPP1R9A gene is important in brain activity, some people may have:

  • Global developmental delay
  • Intellectual disability

How many people have PPP1R9A-related syndrome?

As of 2024, people with pathogenic variants of PPP1R9A have not been identified in medical research. Some people with PPP1R9A-related syndrome have been identified in medical clinics, but doctors consider their variants to be of uncertain significance at this time.

Learn more about the PPP1R9A gene and connect with other Simons Searchlight families with the resources below:


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 are currently no GeneReviews for PPP1R9A


Research Articles and References

Below, we have summarized research articles about changes in the PPP1R9A gene. We hope you find this information helpful.

The information available about PPP1R9A is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 PPP1R9A articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about XGENEX 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 PPP1R9A families.

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