- Vascular dilatation (HP:0002617): An abnormal increase in the diameter of an artery or vein, either as a diffuse dilatation or as a localized, sac-like outpouching of the vessel wall (aneurysm). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1053)
- Abnormal cerebral vascular morphology (HP:0100659): An anomaly of the cerebral blood vessels. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1053)
- Peripheral arteriovenous fistula (HP:0100784). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1053)
These phenotypes are associated with the disease Vein of Galen malformation (ORPHA:1053).