Coffin-Siris Syndrome 11 (CSS11)

Coffin-Siris Syndrome 11, also known as css11, is related to middle lobe syndrome and louse-borne relapsing fever. An important gene associated with Coffin-Siris Syndrome 11 is SMARCD1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 1), and among its related pathways/superpathways are Innate Immune System and MAP kinase activation. Related phenotypes are intellectual disability and global developmental delay