MED13

The information for this summary of MED13-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full MED13 Gene Guide

The online Gene Guide includes more information about MED13 such as the chance of having another child with this condition, behavior and development concerns linked to MED13-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

MED13-related syndrome is also called intellectual developmental disorder, autosomal dominant 61. For this webpage, we will be using the name MED13-related syndrome to encompass the wide range of variants observed in the people identified.

What is MED13-related syndrome?

MED13-related syndrome happens when there are changes in 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. 

Symptoms

Because the MED13 gene is important for brain activity, many people who have MED13-related syndrome have: 

  • Developmental delay 
  • Language issues, including speech impairment and problems with understanding 
  • Autism spectrum disorder 
  • Walking issues 
  • Attention-deficit/hyperactivity disorder (ADHD) 
  • Sideways curvature of the spine, also called scoliosis

How many people have MED13-related syndrome?

As of 2024, over 51 people with MED13-related syndrome have been identified in a medical clinic. 

Learn more about the MED13 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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GeneReviews

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.

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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.

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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.

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Family Stories

We do not currently have any stories from MED13 families.

Click here to share your family’s story!