Individuals with Mowat-Wilson syndrome (MWS; OMIM#235730) have characteristic 
facial features, a variety of congenital anomalies such as Hirschsprung disease, 
and intellectual disabilities caused by mutation or deletion of ZEB2 gene. This 
deletion or cytogenetic abnormality has been reported primarily from Europe, 
Australia and the United States, but not in Korea. Here we report a patient with 
characteristic facial features of MWS, developmental delay and spasticity. High 
resolution microarray analysis revealed 0.9 Mb deletion of 2q22.3 involving two 
genes: ZEB2 and GTDC1. This case shows the important role of high resolution 
microarray in patients with unexplained psychomotor retardation and/or facial 
dysmorphism. Knowledge about the most striking clinical signs and implementation 
of effective molecular tests like microarray could significantly increase the 
detection rate of new cases of MWS in Korea. This is the first reported case of 
MWS in Korea.