Below is a summary for the POMGNT1 gene observed in research publications. This is not meant to take the place of medical advice.

What is POMGNT1-related syndrome?

POMGNT1-related syndrome happens when there are changes to both copies of the POMGNT1. These changes can keep the gene from working as it should.

POMGNT1-related syndrome is also called muscular dystrophy-dystroglycanopathy, and some genetic variants cause another condition called retinitis pigmentosa. The information here focuses on POMGNT1 genetic variants that cause muscular dystrophy-dystroglycanopathy. This condition was formerly known as Walker-Warburg syndrome or muscle-eye-brain disease.

Key Role

The POMGNT1 protein is an enzyme that plays an important role in modifying proteins in the cell.


Because the POMGNT1 gene is important for many parts of the body, some people may have:

  • Intellectual disability
  • Low muscle tone
  • Seizures
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Motor development issues
  • Walking problems
  • Vision issues and eye formation defects

Do people who have POMGNT1-related syndrome look different?

People who have POMGNT1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Smaller than average head size
  • Joint issues
  • Undersized lower jaw

How many people have POMGNT1-related syndrome?

As of 2022, at least 118 people with POMGNT1-related syndrome have been identified in a medical clinic.


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.

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 POMGNT1 families.

Click here to share your family’s story!