CERKL and Cognitive impairment: FRZB gene codes for a protein that might play a role in skeletal morphogenesis [17] and thus can be a candidate gene for the craniofacial and hand/foot abnormalities described in patients with this deletion, since they commonly present tapering fingers at the hands and sandal gap at the feet [3-5] as in reported patient I. Haploinsufficiency of CERKL in patient I might justify her cognitive impairment when compared to patient II, since it codes for ceramide kinases that convert ceramide into ceramide-1-phosphate, both key mediators of cellular apoptosis and survival [18].