Review of the charts provided additional clinical data confirming the molecular diagnosis for some of these cases including polycystic kidneys in a patient with biallelic variants in CEP290 (Case 155), kidney failure, motor problems, and intellectual disability in a patient with a homozygous AHI1 variant (Case 221), and chronic kidney disease in a patient with two heterozygous variants of unknown phase in the NPHP4 gene (Case 16). Here, NPHP4 is linked to polycystic kidney disease.