MED13L Foundation

MED13L Syndrome is a rare neurodevelopmental disorder caused by mutations in the MED13L gene on chromosome 12. The MED13L gene helps regulate how genetic instructions are carried out, playing a key role in brain development and other critical body functions.

The MED13L Foundation exists to change the future for individuals with MED13L Syndrome. We drive research, champion therapeutic development, and build a global community of families, clinicians, and scientists—working together with urgency, compassion, and purpose.