MED13L haploinsufficiency syndrome is a genetic syndrome that causes a clinical spectrum of recognizable traits, including but not limited to, intellectual disability, profound language impairment, facial dysmorphisms, hand, foot, vision and auditory abnormalities, hypotonia with motor delays, behavioral issues, seizures, cardiac abnormalities, and autism.
Although considered a rare disease, with the advancement of genetic testing, more children and young adults are being diagnosed with MED13L syndrome at an alarming rate. We at the MED13L Foundation are reaching out to you to help us on our mission to find treatment and a cure for MED13L syndrome.
Your donation will have a direct impact on the MED13L community as we work together to make the hope of having a cure someday into a reality. Your support will go directly to our research initiatives including drug research and gene therapy.
There are many grateful families around the world that thank you for your support!!!!
For more information and to read about our incredible MED13L families, please visit www.med13l.org