A recent meta-analysis have demonstrated that nearly 25% of individuals with homozygous or compound heterozygous SLC34A3 mutations have no rickets/osteomalacia, and 50% of individuals without renal calcifications (nephrolithiasis or nephrocalcinosis), reflecting the heterogeneity in clinical presentations caused by SLC34A3 mutations [45]. The gene discussed is SLC34A3; the disease is nephrocalcinosis.