Pathogenic variants in type IV collagens cause Alport syndrome (COL4A3, COL4A4, and COL4A5), which primarily affects the glomerular basement membrane (11, 12) and Gould syndrome (COL4A1 and COL4A2), a congenital multisystem disorder that includes highly variable cerebrovascular disease, pediatric epilepsy, ocular anterior segment dysgenesis, skeletal myopathy, and nephropathy (13, 14, 15, 16, 17, 18). Here, COL4A1 is linked to COL4A1/A2-related disorder.