Learn more about the PTCHD1 gene and connect with other Simons Searchlight families with the resources below:


Support Resources


Research Article Summaries

Below, we have summarized research articles about changes in the PTCHD1 gene. We hope you find this information helpful.

The information available about PTCHD1 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.


Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability

Original research article by B. Torrico et al. (2015)

Read the abstract here and the Simons Searchlight summary here.


Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorder

Original research article by A. Chaudhry 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 PTCHD1 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 PTCHD1 families.

Click here to share your family’s story!