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
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VOICE OF THE COMMUNITY REPORT
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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