Haploinsufficiency as a disease mechanism in <i>GNB1</i>‐associated neurodevelopmental disorder

Abstract

Here, we report two patients with functionally confirmed loss of function variants in GNB1 and neurodevelopmental phenotypes including intellectual disability, hypotonia, and seizures in one patient. These results suggest haploinsufficiency of GNB1 is a mechanism for neurodevelopmental disorders in humans.