Below is a summary for the MED13 gene observed in research publications. This is not meant to take the place of medical advice.

What is MED13-related syndrome?

MED13-related syndrome happens when there are changes to the MED13 gene. These changes can keep the gene from working as it should.

Key Role

The MED13 gene plays a key role in the development of the brain.


Many people who have MED13-related syndrome have:

  • Developmental delay
  • Language concerns including speech impairment and some problems with understanding
  • Autism spectrum disorder

Do people who have MED13-related syndrome look different?

People who have MED13-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Wide-set eyes
  • Broad, high nasal bridge and full nasal tip
  • Wide mouth with 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 MED13.


Research Article Summaries

We currently do not have any article summaries for MED13, but we add resources to our website as they become available.

The information available about MED13 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 MED13 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 MED13 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 MED13 families.

Click here to share your family’s story!