For this reason, short stature in our patients could be explained by the combined effect of this heterozygous modifying variation of CEP63 together with the homozygous 2 bp deletion in ASPM. Nonsense and frameshift variants of RAD50 were previously reported in families afflicted with Nijmegen breakage syndrome-like disorder (MIM #613078). Here, RAD50 is linked to Nijmegen breakage syndrome-like disorder.