Biallelic RAD50 LOF mutations were reported in only two patients who presented with a Nijmegen breakage syndrome (NBS)-like but distinctive phenotype with key clinical features including facial dysmorphisms, congenital microcephaly, prenatal and postnatal growth retardation, short stature, mild intellectual disability, and radioresistant DNA synthesis [22,23,24]. This evidence concerns the gene RAD50 and Nijmegen breakage syndrome.