New Orphanet summary reviewed by ITHACA : Mowat-Wilson syndrome

Mowat-Wilson syndrome is a rare multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

Mowat-Wilson syndrome has just been updated on Orphanet (ORPHA / 2152) – October 2020 – and revised by Dr Livia GRAVELLI for ERN ITHACA.

Follow the link to read the summary