• Intellectual disability, typically moderate to severe (100%)
• Facial features
o Hypertelorism (71,7%)
o Wide eyebrows with medial flare and irregularity in the middle third (73,6%)
o Prominent columella (79%)
o Open mouth expression (85%)
o Prominent or pointed chin (72%)
o Ear lobes raised and with a central depression (85%)
• Seizures (78,5%)
• Microcephaly (77,5%)
• Hypospadias in males (59,7%)
• Congenital heart defects: septal defects, anomalies of the pulmonary arteries and / or valves, pulmonary artery sling and/or other congenital heart disease (58,1%)
• Short stature (46,4%)
• Hirschsprung disease (HSCR) (44,8%)
• Constipation (without known HSCR) (29%)
• Cryptorchidism (41,5%)
• Anomalies of corpus callosum (79,6%)
• Renal anomalies (25,3%)
• Structural anomalies of the eye (9,9%)
• Pyloric stenosis (7,4%)
• Cleft lip and/or palate (1,8%)
ZEB2