Biallelic pathogenic and likely pathogenic variants in the WDR19 gene present an established cause of autosomal recessive Cranioectodermal dysplasia 4 (OMIM: 614378), Nephronophthisis 13 (OMIM: 614377), Senior-Loken syndrome 8 (OMIM: 616307) and Short-rib thoracic dysplasia 5 with or without polydactyly (OMIM: 614376). The gene discussed is WDR19; the disease is Senior-Loken syndrome 8.