Coffin-Siris Syndrome 8 (CSS8)

Coffin-Siris Syndrome 8, also known as css8, is related to hypertrichosis and coffin-siris syndrome 1. An important gene associated with Coffin-Siris Syndrome 8 is SMARCC2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin Subfamily C Member 2), and among its related pathways/superpathways are Assembly of the pre-replicative complex and Chromatin organization. Related phenotypes are intellectual disability and global developmental delay