STX11 and hyperinsulinemic hypoglycemia, familial, 4: The 6 mutations that were not detected in this initial blinded analysis were the SH2D1A and STX11 deletions in 3 cases (patients 5, 10 and 13) and 3 pathogenic variants with MAF >1% in the 1000G database in 3 other cases; patients 3 with intronic UNC13D c.118-308C>T (MAF 0.28) for FHL3 [24], patient 8 with the common monoallelic PRF1 p.A91V (MAF 0.02) for FHL2 [16], and patient 11 with CECR1 -12233delC in the 5’UTR region (MAF 0.07) for deficiency of adenosine deaminase 2 (DADA) [25].