“Registries for Rare Diseases: Involve the Patient” http://www.medscape.com/
The SYNGAP1 (MRD5) Registry collects disease-specific natural history data about individuals with SYNGAP1, with the goal of improving the understanding of SYNGAP1 and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:
If you would like access to the SYNGAP1 (MRD5) Registry data for a research project, please contact our registry administrator at firstname.lastname@example.org. Access SYNGAP1 (MRD5) data is contingent upon project approval by the SYNGAP1 (MRD5) Natural History and Registry Advisory Board Charter Committee.