Below is a summary for the PTCHD1 gene observed in research publications. This is not meant to take the place of medical advice.

What is PTCHD1-related syndrome?

PTCHD1 related syndrome happens when there are changes to the PTCHD1 gene. These changes can keep the gene from working as it should. PTCHD1-related syndrome can also happen when larger segments of DNA are deleted. Then it is known as Xp22.11 deletion syndrome.

Key Role

The PTCHD1 gene plays a key role in brain development and the function of brain cells.


Because the PTCHD1 gene is important in brain cells, many people who have PTCHD1-related syndrome have:

  • Intellectual disability, or developmental delay, or both
  • Autism spectrum disorder
  • Low muscle tone, also known as hypotonia

Do people who have PTCHD1-related syndrome look different?

People who have PTCHD1-related syndrome may look slightly different. Appearance can vary and can include some but not all of these features:

  • Long face
  • Larger than average forehead
  • Puffy eyelids
  • Thin upper lip

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 is currently no GeneReviews for PTCHD1.


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.

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 PTCHD1 articles can be found here.

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.

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 PTCHD1 families.

Click here to share your family’s story!