Despite these genes typically being associated with syndromic diseases such as Charcot–Marie–Tooth in inverted formin-2 (INF2), papillorenal syndrome in paired box 2 (PAX2), Denys–Drash syndrome in Wilms tumor suppression gene (WT1), and Alport syndrome (AS) in the collagen type IV alpha 5 chain (COL4A5), all their patients presented with isolated renal manifestations [4]. Here, PAX2 is linked to renal coloboma syndrome.