Mutation of the megalin gene is associated with Donnai-Barrow syndrome, which is characterized by agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, hearing loss, and developmental delay, and facio-oculo-acoustico-renal syndrome, which is characterized by low-molecular-weight proteinuria and albuminuria [28,29]. Here, LRP2 is linked to Donnai-Barrow syndrome.