Below is a summary for the MED13L gene observed in research publications. This is not meant to take the place of medical advice.

Download the latest quarterly report hereThe goal of this report is to share up-to- date data contributed by families. The new report features information from the Child Behavior Checklist (CBCL). The CBCL is a survey that you fill out on your dashboard. If you want to be included in future reports, join Simons Searchlight today!

To view past registry reports go to the bottom of this page and click on the dropdown menu tab labeled “Previous Registry Reports.”


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.


Many people who have MED13L-related syndrome have:

  • Intellectual disability
  • Speech impairments
  • Differences in facial features

Do people who have MED13L-related syndrome look different?

People who have MED13L-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Large tongue
  • Open mouth
  • Low set ears
  • Flat nasal bridge
  • Bulging nose
  • Broad forehead
  • Differences in the hands and feet

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 MED13L.



Simons Searchlight Family & Research Conference 2020

MED13L Virtual Conference


General Session 1


General Session 2


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.


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.



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.


Family Stories

Stories from MED13L families:

Click here to share your family’s story!


Previous Registry Reports