Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.