General:
- Global developmental delay
- Short stature
- Microcephaly
Neurological:
- Intellectual disability
- Abnormal white matter
- Brain atrophy
- Wide cavum septum pellucidum and ventricles
Cardiovascular:
- Ventricular septal defect
- Atrial septal defect
- Patient foramen ovale
- Left pulmonary artery sling
- Persistent left superior vena cava
- Dilated coronary sinus
Head and Neck:
- Variable facial dysmorphism, with the main shared features including prominent nose prominent nasolabial folds, and large ears. Additional features that were reported include depressed nasal bridge and micrognathia.
- Abnormalities of the eye, including strabismus and cataract
Genitourinary:
- Hypospadias