Coffin-Siris Syndrome 5 (CSS5)

Coffin-Siris Syndrome 5, also known as css5, is related to coffin-siris syndrome 6 and coffin-siris syndrome 4. An important gene associated with Coffin-Siris Syndrome 5 is SMARCE1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1), and among its related pathways/superpathways is RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known. Affiliated tissues include heart and brain, and related phenotypes are seizure and intellectual disability