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We summarized the clinical features and molecular findings of the Kabuki syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic <jats:italic>KMT2D<\/jats:italic> variants and one patient had <jats:italic>KDM6A<\/jats:italic> deletion. Nine <jats:italic>KMT2D<\/jats:italic> variants were novel. The clinical phenotype of our Chinese KS patients was largely comparable with that reported in patients of other ethnicities. This study expands the mutation spectrum but also provide important natural history information of Chinese KS in literature.<\/jats:p>","DOI":"10.1002\/ajmg.a.62003","type":"journal-article","created":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T05:15:15Z","timestamp":1607922915000},"page":"675-686","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3536-7462","authenticated-orcid":false,"given":"Po L.","family":"So","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Tuen Mun Hospital  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4066-4066","authenticated-orcid":false,"given":"Ho M.","family":"Luk","sequence":"additional","affiliation":[{"name":"Clinical Genetic Service, Department of Health Hong Kong Children's Hospital  Hong Kong SAR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris P. 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