Previously sequence variants in KIAA1109 (4q27) encoding a protein playing role in endosomal trafficking and endosome recycling of lipids have been reported to cause Alkuraya-Kucinskas syndrome characterized by brain abnormalities associated with cerebral parenchymal underdevelopment, arthrogryposis, clubfoot, and global developmental delay. Here, BLTP1 is linked to Alkuraya-Kucinskas syndrome.