Coffin-Siris Syndrome 6 (CSS6)

Coffin-Siris Syndrome 6, also known as css6, is related to congenital myopathy 12 and atrial septal defect 6. An important gene associated with Coffin-Siris Syndrome 6 is ARID2 (AT-Rich Interaction Domain 2), and among its related pathways/superpathways are Post-translational modification: synthesis of GPI-anchored proteins and Notch Signaling Pathways. Affiliated tissues include lung and skin, and related phenotypes are global developmental delay and short stature