Table 1: Clinical features of our patient compared to those in published cases of MWS with proven ZEB2 mutations.

Clinical features Our patient Mowat-Wilson syndrome* ZEB2 mutations + 100% Intellectual disability + 100% Typical facial gestalt + 97% Microcephaly + 81% Seizures + 73% HSCR −** 57% CHD −** 52% Hypospadias − 52% Short stature + 46% Hypoplasia or agenesis of CCA NT 43% Cryptorchidism − 36% Constipation − 26% Pyloric stenosis − 4.7% Eye anomalies − 4.1% Cleft palate − 2.9%

*Adapted from Garavelli and Mainardi (2007) [4]. **Symptoms not observed although the gold standard diagnosis has not been performed. NT: Not Tested, HSCR: Hirschprung Disease, CHD: Congenital Heart Defect, CCA: Corpus Callosum.