Clinically, HHRH patients, who carry homozygous or compound heterozygous SLC34A3/NPT2c mutations, often show hypophosphatemia following decreased renal phosphate reabsorption, rickets and/or osteomalacia and frequently kidney stones or nephrocalcinosis. Here, SLC34A3 is linked to hereditary hypophosphatemic rickets with hypercalciuria.