Below is a summary for the MED13L gene observed in research publications. This is not meant to take the place of medical advice.
LATEST REGISTRY REPORT
Download the latest quarterly report here. The goal of this report is to share up-to-date data contributed by families. Building off the last report, the team used the Quality of Life Inventory to ask caregivers to describe how their family member with MED13L responds to life experiences. This survey and other important tasks are located on your dashboard. Participating in surveys is very important to the longevity of our study. Your unique experience could hold the clues that scientists need to find answers for you and others with rare genetic disorders. 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.”
VOICE OF THE COMMUNITY REPORT
Download the Voice of the Community report here. The Simons Searchlight team is happy to share the results from a special survey called The Simons Searchlight Voice of the Community. The results include specific data and information about your community. We extend a big thank you to everyone who contributed their unique information and insight. We couldn’t have done this without you.
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.
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
Research Article Summaries
Previous Registry Reports