Learn more about the PPP2R5D 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.

Check out the GeneReviews for PPP2R5D.


Research Article Summaries

Below, we have summarized research articles about changes in the PPP2R5D gene. We hope you find this information helpful.

The information available about PPP2R5D 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.

You can also visit the Simons Foundation ’s SFARI Gene website to see information for researchers about this gene.


De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism

Original research article by L. Shang et al. (2016)

Read the abstract here and the Simons Searchlight summary here.


B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

Original research article by G. Houge et al. (2015)

Read the abstract here and the Simons Searchlight summary here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PPP2R5D genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from PPP2R5D families:

Click here to share your family’s story!