Synonyms: MED13L-related intellectual disability syndrome
A rare genetic syndromic intellectual disability characterized by developmental delay mild to severe intellectual disability facial features (bulbous nasal tip and macroglossia macrostomia or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2026
Newly diagnosed with
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency?
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Advocacy Organizations
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
MED13L Foundation
1. Coordinate and collaborate with the global scientific community to understand the function of the MED13L gene in order to develop effective treatments and a cure for MED13L syndrome. 2. Increase medical community and public awareness of the complexity and potential severity of MED13L syndrome. 3. Provide educational and emotional support for those affected. 4. Fundraise to support these goals.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.