Whereas Hob proteins (KIAA0100 in humans) have not been linked to human disease yet, mutations in KIAA1109 cause Alkuraya-Kučinskas syndrome, an autosomal recessive, neurodevelopmental disorder characterized by global developmental delay and brain abnormalities associated with cerebral parenchymal underdevelopment (Kumar and others 2020). The gene discussed is BLTP1; the disease is neurodevelopmental disorder.