Angelman syndrome due to a point mutation

Get in touch with RARE Concierge.

Contact RARE Concierge

Angelman syndrome due to a point mutation

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 Data version May 2024

Newly diagnosed with
Angelman syndrome due to a point mutation?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

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.

Clinical Trials

For a list of clinical trials in this disease area, please click here.