Mutations in WDR19 have been associated with a broad spectrum of ciliopathies, such as Sensenbrenner syndrome (cranioectodermal dysplasia), Jeune syndrome, Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy), and nonsyndromic asthenoteratospermia [13, 23, 24]. Here, WDR19 is linked to nephronophthisis.