MED13L

The information for this summary of MED13L-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full MED13L Gene Guide

The online Gene Guide includes more information about MED13L such as the chance of having another child with this condition, behavior and development concerns linked to MED13L-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

MED13L-related syndrome is also called impaired intellectual development and distinctive facial features with or without cardiac defects (MRFACD) or MED13L haploinsufficiency syndrome. For this webpage, we will be using the name MED13L-related syndrome to encompass the wide range of variants observed in the people identified.

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Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

View all reports below by clicking on “Previous Quarterly Reports” at the bottom of this page.

What is MED13L-related syndrome?

MED13L-related syndrome happens when there are changes to the MED13L gene. These changes can keep the gene from working as it should.

Key Role

MED13L plays a key role in growth of the brain and heart.

Symptoms

Because the MED13L gene is important for brain activity, many people who have MED13L-related syndrome have: 

  • Developmental delay 
  • Intellectual disability 
  • Speech impairments 
  • Changes in facial features 
  • Heart defects 
  • Lower than average muscle tone 
  • Genital defects in males

How many people have MED13L-related syndrome?

As of 2024, over 287 people with MED13L-related syndrome have been identified in a medical clinic.

Learn more about the MED13L 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 MED13L .

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Presentations

Simons Searchlight Family Research Conference 2022 Registry Update

Registry Update Slide Deck

Simons Searchlight Family & Research Conference 2021 MED13L Virtual Conference

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Simons Searchlight Family & Research Conference 2020 MED13L Virtual Conference

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Research Article Summaries

Below, we have summarized research articles about changes in the MED13L gene. We hope you find this information helpful. The information available about MED13L 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 MED13L articles can be found here. You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

  • Further confirmation of the MED13L haploinsufficiency syndrome Original research article by M.M. van Haelst  et al. (2015). Read the abstract here and the Simons Searchlight summary here.
  • The clinical significance of small copy number variants in neurodevelopmental disorders Original research article by R. Asadollahi et al. (2014).  Read the abstract here and the Simons Searchlight summary here.
  • Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability Original research article by R. Asadollahi et al. (2013). Read the abstract here and the Simons Searchlight summary here.
  • De novo gene disruptions in children on the autistic spectrum Original research article by E.M. Iossifov et al. (2012) Read the abstract here and the Simons Searchlight summary here.
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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MED13L genetic changes by taking part in our research. You can learn more about the project and sign up here.

TIGER Study

The University of Washington’s Autism Center seeks to better understand the medical, learning, and behavioral features of people with changes in MED13L. Click here to learn more about this opportunity.

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

Stories from  MED13L  families:

Click here to share your family’s story!

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Previous Quarterly Reports