Below is a summary for the MED13L gene observed in research publications. This is not meant to take the place of medical advice.
This latest report includes updated information about Simons Searchlight participants with MED13L-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry 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.
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