Chromosome 16p11.2 Deletion Syndrome

Chromosome 16p11.2 Deletion Syndrome, also known as distal 16p11.2 microdeletion syndrome, is related to episodic kinesigenic dyskinesia 1 and benign familial infantile epilepsy. An important gene associated with Chromosome 16p11.2 Deletion Syndrome is SH2B1 (SH2B Adaptor Protein 1), and among its related pathways/superpathways is 16p11.2 proximal deletion syndrome. Affiliated tissues include brain and kidney, and related phenotypes are global developmental delay and delayed speech and language development