Mowat-Wilson syndrome is a mental retardation-multiple congenital anomaly 
syndrome characterized by a typical facies, developmental delay, epilepsy, and 
variable congenital malformations, including Hirschsprung disease, urogenital 
anomalies, congenital heart disease, and agenesis of the corpus callosum. This 
disorder is sporadic and is caused by heterozygous mutations or deletions of the 
ZFHX1B gene located in the 2q22 region. We report here the first Moroccan 
patient, born to consanguineous parents, with Mowat-Wilson syndrome, due to a de 
novo, unreported mutation of the ZFHX1B gene.