We analyzed the 10 patients mentioned above, as well as 18 additional patients with the same genotype (heterozygous for rs118031911/T, with no other recognized mutations in RP1 and no mutations in HRD genes that could explain their phenotype), identified following a targeted screening of 713 Japanese HRD cases from another internal cohort (Supplementary Table 1). The gene discussed is TBCE; the disease is hypoparathyroidism-retardation-dysmorphism syndrome.