Other patients found with mutations in SWI/SNF complex subunits are described for SMARCB1 (OMIM# 601607) have been shown to cause either CSS, but also DOORS syndrome (OMIM# 220500) or Kleefstra syndrome (OMIM# 610253) depending on the site/location of the mutation [286, 287]. The gene discussed is SMARCB1; the disease is Coffin-Siris syndrome.