The zip or country code of the person with Kabuki syndrome helps determine locations for future centers of excellence, clinical trials, and in-person gatherings for families and for research. We can also see who we haven’t connected with yet and find ways to reach them too.
The year the person with Kabuki syndrome was born allows us to estimate how many people have Kabuki syndrome in a given age range, which informs research and potential treatment partners how many people could participate in studies that have specific age parameters.
Collecting the race and ethnicity of the person with Kabuki syndrome demonstrates that Kabuki syndrome occurs in all populations. We can also learn more about who may be missing or areas that are under-diagnosed or otherwise underrepresented.
The diagnosis type (clinical, KMT2D, KDM6A, or other) and mutation type (missense or nonsense) are collected because this information is useful to researchers and pharmaceutical partners as they study this condition and explore treatments. If you don’t know what type of diagnosis or mutation you/your child has, that’s okay. Please complete the form to the best of your ability. You can update your data at any time by submitting the form again.