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Phenotypic characteristics of CdLS caused by mutations in different cohesin regulatory and structural components. A–D: 28-year-old girl with truncating mutation in NIPBL. E–H: 7-year-old boy with missense mutations in NIPBL; I–L: 3-year-old girl with in frame insertion/deletion mutation of HDAC8. M and N: 15-year-old girl with missense mutation in SMC1A. O and P: 3-year-old boy with deletion of RAD21. Q–U: 57-year-old man with in frame deletion of SMC3 (shown as a teenager in “Q”).
