Below is a summary for the MEF2C gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.

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.

Key Role

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

Do people who have MEF2C-related syndrome look different?

People who have MEF2C-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Broad forehead
  • Prominent ear lobes
  • Tented upper lip

Seizures during infancy or childhood are common. This can include different types of seizures.


Some people show features of autism, such as poor eye contact.


Most people have intellectual disability, which is often severe.

Learn more about MEF2C and connect with other Simons Searchlight families with the resources below.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for MEF2C.


Research Article Summaries

We currently do not have any article summaries for MEF2C, but we add resources to our website as they become available.

The information available about MEF2C is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for MEF2C articles can be found here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MEF2C genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from MEF2C families.

Click here to share your family’s story!