Mowat-Wilson syndrome (MWS) is an autosomal dominant intellectual disability 
syndrome characterised by unique facial features and congenital anomalies such 
as Hirschsprung disease, congenital heart defects, corpus callosum agenesis and 
urinary tract anomalies. Some cases also present epilepsy, growth retardation 
and microcephaly. The syndrome is caused by mutations or deletions of the ZEB2 
gene at chromosome 2q22-q23. MWS was first described in 1998 and until now 
approximately 180 cases have been reported worldwide. We report the first three 
molecularly confirmed Danish cases with MWS.