e frequency on the basis of 722 patients sequenced since October 2011. Rapid WGS in CMH064 and exome sequences of his parents were also analyzed by Clinical Sequence Miner (deCODE Genetics). Fig. 2. Skin lesions in patient CMH064. (A) Desquamated lesions with erythroderma on the scalp at birth. (B) Day 30 progression