Learn more about POMGNT1 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.

Congenital Muscular Dystrophy can be caused by POMGNT1 (GeneReviews linked here), or other genes listed in this review.

Check out the GeneReviews for Congenital Muscular Dystrophy.


Research Article Summaries

We currently do not have any article summaries for POMGNT1, but we add resources to our website as they become available.

The information available about POMGNT1 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 POMGNT1 articles can be found here.

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


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about POMGNT1 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 POMGNT1 families.

Click here to share your family’s story!