Homozygous missense or heterozygous frameshift mutations in NPHP4 have been associated with Nephronophthisis, an autosomal recessive kidney disease mainly affecting children and young adults (Strauss and Sommers, 1967) that presents with polyuria, polydipsia, and anemia (Wolf, 2015); it has been associated with different syndromes, including the Senior–Loken syndrome (SLSD) with retinitis pigmentosa (RP), Joubert syndrome with RP, cerebellar and brainstem malformations, and intellectual disability (Otto et al., 2002, 2005; Parisi et al., 2004). The gene discussed is NPHP4; the disease is retinitis pigmentosa 1.