Families Supporting the MED13L Syndrome Cause

We strive to spread awareness, provide family support, and advance medical research in search of a cure for MED13L syndrome.

What is MED13L?

MED13L Syndrome: A Rare Genetic Neurodevelopmental Disorder

MED13L Syndrome was first described as a neurodevelopmental disorder in 2013. It was further expanded by both Adegbola and Asadollahi as a Syndrome with global developmental delay, intellectual disability (ID) with speech and movement delay, hypotonia (low tone), and recognizable facial features. Currently, there are about 100 cases reported in medical literature.

Donate & Support

Your support will have a direct impact on the Med13L community, and your donation will go directly to our community engagement and research initiatives.


Welcome, we’re glad you found us.

Our foundation is a collective group of individuals, parents, researchers, and medical professionals banded together to advance research and understanding of MED13L Syndrome.

Our MED13L community is popping up all over the globe! Help support each other no matter the distance between us.

Symptom Checker Icon

Symptom Checker

The MED13L Foundation and Probably Genetic have partnered to enhance genetic testing access and advance research in our community.

New Diagnosis

Visit our new diagnosis help page now and find tailored resources, guidance, and community connections to navigate this path together.

Tell Your Story

Diagnosed with MED13L or serving as a caregiver? Register on our website to create a profile on our community map and tell your story.

Share your story & empower our community.

Share your story in the Rare-X natural history database. Together, let’s illuminate the path to understanding and advancing research for MED13L Related Neurodevelopmental Disabilities. Our goal is 100% community participation for a brighter future for our children.

Donating takes less than 2 minutes, and goes directly towards research.

Stay Current

Recent News

  • Group of People Holding Arms
    Our Strength Is In Our Numbers
    By Inon Shampanier
    Read Blog
  • Making Rare Mean Recognized, Not Forgotten
    By Katie Boychuck
    Read Blog
  • Person Holding a Globe
    Join us! World MED13L Syndrome Day 2023
    By Nick Seaver
    Read Blog
  • Inspired by Hope & Driven by Love
    By Katie Boychuck
    Read Blog
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Events & Research Opportunities

Learn about opportunities to host a fundraiser or event.

In order to support the MED13L Foundation cause it is critical that we get more people involved in hosting and sponsoring events to raise money and awareness.

Newly Diagnosed?

Join our network of supporting families and find support.

Information & Help

Resources & Tools

Research Opportunities

Learn about research opportunities that the MED13L community offers. Whether you’re a patient, caregiver, or medical professional, there’s a chance for you to contribute to groundbreaking studies.

Education & Resources

By providing the most current information, comprehensive research findings, and expert insights, we empower the MED13L community to make well-informed decisions and more effectively navigate their complex journey.

Newly Diagnosed Help

If you are diagnosed with MED13L or a MED13L caregiver, put yourself on the map, and connect with other community members around the world.

The Mighty Network

Join the MED13L Mighty Network and communicate, coordinate events, and collaborate with other MED13L community members.

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From Our President

We Appreciate You. We Need Your Help.

A few years ago, when I started to work on the Foundation’s mission to find medicines for MED13L, I felt like I’d been dropped in the middle of a thick jungle at night with nothing but a candle and a pocket knife, not even sure where the mountain was that we had to climb.  Then a small group of parents joined in the effort and all of a sudden we could band together to start to find and move down a path.  We’ve made incredible early progress, way more than we dreamt was possible.  It’s all because of this small group of committed parents — and the engagement of the broader community with things like research studies, patient surveys, volunteering and fundraising.  We’re just beginning.  We’re all living at the dawn of a “Golden Age of Medicine,” where tools like AI, high-throughput assays and genetic medicines like CRISPR and RNA therapeutics are opening up incredible possibilities that weren’t available to rare diseases like ours, even just a few years ago.  To take advantage of these possibilities, we need help!  We are grateful for all the engagement thus far.  It’s exciting to see our community numbers grow by the day.  Our hope is that this engagement will only grow.  It’s more than a hope – it’s a dream that burns in all of us.  Every day counts for our MED13L family members.  There’s so much to do!  Please join our efforts.  The more people lean in, the faster we can climb the mountain ahead.

– Nick Seaver