ERCC6L2 and microcephaly: ERCC6L2 is a recently discovered gene linked to the development of hematological diseases, encoding a centromeric protein involved in chromatin unwinding as well as DNA repair, recombination, and translocation. Bi-allelic germline variants in ERCC6L2 are associated with bone marrow failure syndrome two and increase the risk of developing myeloid malignancies in affected individuals. Homozygous pathogenic variants in ERCC6L2 were initially identified in two consanguineous families, and the affected children had developmental delay and microcephaly in addition to bone marrow failure [3].