Core clinical features
- Global developmental delay
- Intellectual disability
- Absent or hypoplastic corpus callosum
- Craniofacial dysmorphism
Additional variable clinical features
- Microcephaly or mild macrocephaly
- Short stature
- Growth hormone deficiency
- Feeding difficulties
- Cardiovascular anomalies (coarctation of aorta, mitral valve stenosis)
- Kidney anomalies (multicystic dysplastic kidneys)