In contrast to the ATR-Seckel syndrome cell line, all the SLF2 or SMC5 patient cell lines were capable of activating ATR or the intra-S phase checkpoint in response to HU and MMC (Supplementary Figs. 11e, f, 13) indicating that dysregulation of the ATR stress response pathway does not account for the observed DNA replication defects. The gene discussed is ATR; the disease is microcephalic primordial dwarfism.