LRP2BP is most highly expressed in the pituitary gland, as well as in cerebellum, and acts as an adapter that regulates LRP2 receptor function.57, 72 Mutations in the LRP2 gene have been associated with forebrain malformations,73 autism spectrum disorder74 and mild ID.75 Moreover, genetic mutations in the LRP2 gene are known to cause Donnai–Barrow syndrome76 characterized by agenesis of the corpus callosum, developmental delay, as well as mild to moderate ID.77 Here, LRP2BP is linked to Global developmental delay.