Information for Researchers

The Kabuki Syndrome Registry collects disease-specific natural history data about individuals with Kabuki syndrome, with the goal of improving the understanding of the syndrome 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 KS Registry data for a research project, please contact our registry administrator at Access to KS Registry data is contingent upon project approval by the KS Advisory Board.