Diagnostic NGS testing for cystic ciliopathy genes retrieved a likely pathogenic missense variant (c.7964A > C; p.(His2655Pro)) in PKHD1. A second synonymous variant (c.6900C > T; p.(Asn2300=)) in trans was also identified, which had been previously reported as disease-causing in an ARPKD patient [32]. The gene discussed is PKHD1; the disease is autosomal recessive polycystic kidney disease.