WES studies for variants known in hematological disorders identified a variant in EIF6 which is likely to be associated with a favorable bone marrow condition, a variant in ASXL1 which warrants hematological surveillance, already scheduled in any SDS patient, and a variant in GNAS, which may explain the endocrinological abnormalities found, which are not part of the description of the syndrome. Here, ASXL1 is linked to hematologic disorder.