Below is a summary for the MEF2C gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about MEF2C such as the chance of having another child with this condition, behavior and development concerns linked to MEF2C -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
The latest Simons Searchlight report includes updated information on your genetic community.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is MEF2C -related syndrome?
MEF2C -related syndrome happens when there are changes to the MEF2C gene. These changes can keep the gene from working as it should.
The MEF2C gene is important for muscle and brain cells.
Because the MEF2C gene is important in the development and function of brain cells, many people who have MEF2C -related syndrome have:
- Intellectual disability
- Speech difficulties or no speech
- Delayed walking
- Autism or features of autism
Learn more about MEF2C and connect with other Simons Searchlight families with the resources below.
Research Article Summaries
Previous Registry Reports
Sources and References