In this cohort, rare variants with evidence of pathogenicity were also identified in COL3A1 (associated with Vascular Ehlers-Danlos syndrome), LOX (familial thoracic aortic aneurysm and dissection), and FLNA (disorders associated with neuronal migration abnormalities) [21•]. Here, COL3A1 is linked to Ehlers-Danlos syndrome, vascular type.