The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series

Kabuki syndrome (KS) is a rare disorder of transcriptional regulation with a complex phenotype that includes cranio‐facial dysmorphism, intellectual disability, hypotonia, failure to thrive, short stature, and cardiac and renal anomalies. Heterozygous, de novo dominant mutations in either KMT2D or KDM6A underlie KS. Limited information is available about the phenotypic spectrum of KS in China. Fourteen Chinese patients with genetically confirmed...