Table 1 Mowat-Wilson Syndrome: Clinical features in patients with ZEB2 mutations [1-31].
From: Mowat-Wilson syndrome
Clinical features | Published cases (n = 171) |
|---|---|
Facial gestalt | 166/170 (97%) |
M:F | 100:70 |
Mental retardation | all, moderate, usually severe |
Microcephaly | 135/166 (81%) |
Seizures | 102/139 (73%) |
HSCR | 97/170 (57%) |
Constipation | 19/73 (26%) |
CHD | 87/167 (52%) |
Urogenital/renal anomalies | 81/156 (51%) |
Hypospadias | 33/63 (52%) |
Cryptorchidism | 23/63 (36%) |
Renal anomalies | 20/156 (12.8%) |
Short stature | 34/73 (46%) |
Hypoplasia or agenesis of corpus callosum | 67/155 (43%) |
Pyloric stenosis | 8/170 (4.7%) |
Structural eye anomalies | 7/170 (4.1%) |
Cleft palate | 5/170 (2,9%) |
Pulmonary artery sling with/without tracheal stenosis/hypoplasia | 5/167 (2.9%) |
ZEB2 mutations | All |