The information for this summary of MED12-related syndrome comes from research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about MED12 such as the chance of having another child with this condition, behavior and development concerns linked to MED12-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is MED12-related syndrome?
MED12-related syndrome happens when there are changes in the MED12 gene. These changes can keep the gene from working as it should.
The MED12 gene plays an important role in the development of the brain.
Because the MED12 gene is important for many parts of the body, some people may have:
- Intellectual disability, mild to moderate
- Developmental delay
- Autism or features of autism
- Behavior issues, such as aggressive behavior or obsessive compulsive disorder
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart development defects
- Hearing issues
- Feeding issues and intestinal development issues
How many people have MED12-related syndrome?
As of 2024, about 84 people in the world with MED12-related syndrome have been identified in the medical clinic.
Research Article Summaries