Mowat-Wilson syndrome
Mowat-Wilson syndrome
Definition
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.
Also known as Hirschsprung disease intellectual disability syndrome, Hirschsprung disease-intellectual disability syndrome, microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease, Mowat-Wilson syndrome — per MONDO