Below is a summary for the MED13 gene observed in research publications. This is not meant to take the place of medical advice.
What is MED13-related syndrome?
MED13-related syndrome happens when there are changes to the MED13 gene. These changes can keep the gene from working as it should.
The MED13 gene plays a key role in the development of the brain.
Many people who have MED13-related syndrome have:
- Developmental delay
- Language concerns including speech impairment and some problems with understanding
- Autism spectrum disorder
Do people who have MED13-related syndrome look different?
People who have MED13-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Wide-set eyes
- Broad, high nasal bridge and full nasal tip
- Wide mouth with thin upper lip
Research Article Summaries