Mowat-Wilson Syndrome: The First Clinical and Molecular Report of an Indonesian Patient

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.