In our cohort, five patients with either true VGAM (n = 3) or VGD (n = 2) were identified with disease-related variants, thus receiving definite genetic diagnoses; further, two patients presented RASA1 variants, three showed EPHB4 variants, and one patient showed an ACVRL1 variant (Figure 2). Here, RASA1 is linked to vein of Galen aneurysm.