Synonyms: Angelman syndrome due to maternal monosomy 15q11q13
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 October 2024
Newly diagnosed with
Angelman syndrome due to maternal 15q11q13 deletion?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Angelman Syndrome Foundation
The mission of the Angelman Syndrome Foundation is to advance the awareness and treatment of Angelman syndrome through education and information, research, and support for individuals with Angelman syndrome, their families and other concerned parties. We exist to give all of them a reason to smile, with the ultimate goal of finding a cure.
Associação Angelman Brasil
To improve the quality of life of people with Angelman Syndrome by disseminating technical and scientific knowledge and offering appropriate support to families for greater inclusion of these individuals in society.
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
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.
Foundation for Angelman Syndrome Therapeutics (FAST)
FAST is the leading patient advocacy organization working to cure Angelman syndrome. As the largest non-governmental funder of Angelman syndrome research in the world, our goal is to drive forward transformative research and development programs as quickly as possible for those living with Angelman syndrome — regardless of age or genotype.
Foundation for Angelman Syndrome Therapeutics Australia
Ddedicated to assisting individuals living with Angelman syndrome to realise their full potential and quality of life through funding research, education, and advocacy. Our focus is treatments that will improve the symptoms of Angelman syndrome and ultimately research that will provide a cure.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Rare Chromosome Disorder Support Group – Unique
Providing support and information to anyone affected by a rare chromosome or gene disorder, their families and the professionals caring for them.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.