MED12

The information for this summary of MED12-related syndrome comes from research publications. This is not meant to take the place of medical advice. 

Click here for our full MED12 Gene Guide

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.

MED12-related syndrome is also called Hardikar syndrome, Lujan syndrome, X-linked Ohdo syndrome, FG syndrome type 1, Opitz-Kaveggia syndrome, and nonspecific intellectual disability. For this webpage, we will be using the name MED12-related syndrome to encompass the wide range of variants observed in the people identified.

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. 

Key Role 

The MED12 gene plays an important role in the development of the brain. 

Symptoms

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. 

Learn more about the MED12 gene and connect with other Simons Searchlight families with the resources below:

+

Support Resources

Simons Searchlight Facebook group- https://www.facebook.com/groups/303782692692130

+

GeneReviews

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.

Check out the GeneReviews for MED12.

+

Research Article Summaries

The information available about MED12 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 MED12 articles can be found here.

+

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about MED12 genetic changes by taking part in our research. You can learn more about the project and sign up here.

+

Family Stories

We do not currently have any stories from MED12 families.

Click here to share your family’s story!