Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are visualized here. Kabuki syndrome was first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki. A list of the cited publications can be viewed here.
The Guide also includes a summary of recommended medical evaluations from GeneReviews. These are intended to be provided to healthcare professionals for review and implementation, where appropriate.