Most LRP2 mutations to date are associated with Donnai-Barrow syndrome (DBS), also known as facio-oculo-acoustico-renal syndrome, which is a rare autosomal-recessive and multi-system condition involving craniofacial features, ocular abnormalities, developmental delay, agenesis of the corpus callosum (ACC), intellectual disability, sensorineural hearing loss, and proteinuria [23, 26–28]. Here, LRP2 is linked to Intellectual disability.