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 KS were 
evaluated in addition to 11 Chinese patients who were identified from the 
medical literature. The clinical phenotype spectrum of these patients was 
compared to that of 449 patients with KS from non-Chinese ethnicities. 
Additionally, we explored the utility of a facial recognition software in 
recognizing KS. All 25 patients with KS carried de novo, likely pathogenic or 
pathogenic variants in either KMT2D or KDM6A. Eighteen patients were male, the 
age at diagnosis ranged from 2months to 11.6 years. The facial gestalt included 
arched and broad eyebrows (25/25; 100%), sparse lateral or notched eyebrows 
(18/18; 100%), short columella with a concave nasal tip (24/25; 96%) and large, 
prominent ears (24/24; 100%) which were more frequent in Chinese patients 
(p < .01). In contrast, microcephaly (2/25; 8%), cleft lip/palate (2/25; 8%), 
and cardiac defects (10/25; 40%) were less frequent in Chinese patients (not 
significant). The diagnosis of KS was correctly identified in 13 of 14 patients 
through facial recognition and clinical phenotyping, underscoring the utility of 
this approach. As expected, there is marked phenotypic overlap between Chinese 
and non-Chinese patients with KS, although subtle differences were identified.