16p11.2 Deletion Syndrome

Microdeletions of approximately 550-600 kilobases in the region of chromosome 16p11.2. Deletions may occur in about 1% of patients with autism spectrum disorder, and are also associated with early-onset obesity, intellectual disability, and congenital abnormalities. OMIM: 611913

Source last updated 2026-05-24T15:29:02.402Z