A conspicuous example of the complexity behind the diagnosis of ciliopathies is the recent discovery of ciliary genes pathogenic variants in end-stage kidney disease adult cohorts: the NPHP1 homozygous locus-deletion was found in up to 0.9% frequency in adults raging 18–50 years of age (Snoek et al., 2018), along with a 0.3% frequency of other known ciliopathy-related gene mutations (Groopman et al., 2019). The gene discussed is NPHP1; the disease is ciliopathy.