Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple 
congenital anomalies and varying degrees of mental retardation. Patients with KS 
often present with facial, skeletal, visceral and dermatoglyphic abnormalities, 
cardiac anomalies and immunological defects. Mutation of the lysine 
methyltransferase 2D (KMT2D) gene (formerly known as MLL2) is the primary cause 
of KS. The present study reported the case of a 4‑year‑old Chinese girl who 
presented with atypical KS, including atypical facial features, unclear speech 
and suspected mental retardation. A diagnosis of KS was confirmed by genetic 
testing, which revealed a nonsense mutation in exon 16 of KMT2D (c.4485C>A, 
Tyr1495Ter). To the best of our knowledge, this is a novel mutation that has not 
been reported previously. The present case underscores the importance of genetic 
testing in KS diagnosis.