1,610 People with Kabuki Syndrome Counted in KSF’s Global Census
Each quarter, we provide an update that shows our Kabuki syndrome census growth & data insights from Kabuki Count.
Kabuki Count is the global Kabuki syndrome census and contact registry designed to drive research to treatments for Kabuki syndrome. Thanks to Kabuki Count, we are able to directly notify families who are potentially eligible for new research opportunities and future clinical trials.
Key data insights from the first quarter of 2026:
- 65 new individuals joined Kabuki Count in Q1
- 1,610 total people with Kabuki syndrome have been counted, including:
- 1,027 participants have Type 1 (a KMT2D mutation)
- 245 participants have Type 2 (a KMD6A mutation)
- 154 participants have a clinical diagnosis
- 57 participants have a VUS on KMT2D or KDM6A
Explore more data, like sex and age of participants, and discover how we are empowering our global community to drive research to treatments.
If you have Kabuki syndrome or are a caregiver for someone with Kabuki syndrome, join Kabuki Count in English, French, and Spanish by filling out a simple, three-minute form. It’s the fastest way for you to empower research and be aware of new treatment opportunities. And if you’ve already joined, we invite you to share this opportunity and help our community continue to grow.