In addition, inactivating mutations in the CLCN5 (chloride voltage-gated channel 5, MIM 300008) lead to X-linked recessive HR (XLRHR, MIM 300554) and may be part of clinical presentations in Dent disease 1 (MIM 300009) characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and renal failure [22–24]. Here, CLCN5 is linked to nephrolithiasis.