Following the identification of major skeletal abnormalities in Slc20a2–/– mice, we investigated PFBC patients with heterozygous pathogenic variants in SLC20A2. A retrospective analysis of medical records from a French series of PFBC patients20 revealed none of 24 had cataracts and 4 of 4 had normal serum ALP concentrations. Here, SLC20A2 is linked to bilateral striopallidodentate calcinosis.