According to the findings, there may be associations between copy number variants (CNVs) known to affect neurodevelopmental outcomes and select medical outcomes, including obesity, warranting further genetic, neurobiological, and clinical exploration with crucial translational and therapeutic implications.

• In this series of phenotypic association analyses including data from 24,877 people, the prevalence of CNVs that are known risk factors for neurodevelopmental disorders (NDD) was investigated within a health care system–derived biobank including persons of diverse ancestry, and clinical features linked with these CNVs were also described.

• In the biobank, overall prevalence of NDD CNVs was estimated to be 2.5%.

• Enrichments for congenital disorders and major depressive disorder were identified in NDD CNV carriers.

• Presence of NDD CNVs was identified to be linked with various medical outcomes, including hypertension, obesity, and obesity-related phenotypes, specifically obstructive sleep apnea and elevated body mass index.

• The link between NDD CNVs and obesity outcomes implies further potential pleiotropy of NDD CNVs beyond neurodevelopmental outcomes previously documented.