Coffin-Siris Syndrome 12 (CSS12)

Coffin-Siris Syndrome 12, also known as css12, is related to coffin-siris syndrome 1 and microcephaly. An important gene associated with Coffin-Siris Syndrome 12 is BICRA (BRD4 Interacting Chromatin Remodeling Complex Associated Protein), and among its related pathways/superpathways are Cell surface interactions at the vascular wall and AMPK Enzyme Complex Pathway. Affiliated tissues include cerebellum and kidney, and related phenotypes are intellectual disability and global developmental delay