"MED13L syndrome is an autosomal dominant condition due to pathogenic changes (or mutations) in the MED13L gene which is located on chromosome 12. MED13L encodes part of the mediator complex which plays a critical role in how our genes are expressed (the levels at which genes are turned on and off in different cells and tissues) and how genetic instructions are used by our body. The MED13L gene was initially implicated as a cause of complex heart disease; however, with the characterization of MED13L-related intellectual disability syndrome we now know changes in this gene result in a broader clinical spectrum."
In this episode of Open Book, we hear from Rebecca Mullen & Katie Boychuck of The MED13L Foundation (https://med13l.org @med13lfoundation).