NF1 and hereditary endocrine growth disease: All these variants were identified in genes already associated with growth disorders (Table 2): PROKR2 (N = 2), PTPN11 (N = 6), ANKRD11 (N = 1), NPR2 (N = 1), NF1 (N = 1), ACAN (N = 1), GH1 (N = 1), FBN1 (N = 1), COMP (N = 1), IGF1R (N = 1), ARID1A (N = 1), and CASR (N = 1).