CLCN5 and rickets: NL type 1 (OMIM phenotype number 310468) is an XLR condition resulting from inactivating variants in CLCN5. Hypophosphatemic rickets (OMIM phenotype number 300554) is an XLR condition resulting from inactivating variants in CLCN5. It is characterized by progressive proximal renal tubulopathy with LMW proteinuria, rickets or osteomalacia, hypophosphatemia, hypercalciuria, NC, NL, and progressive ESKD (Bolino et al., 1993).