The exact biochemical pathology of the disease is still under research because of the low prevalence of the disease and the wide array of symptoms associated with it. Several studies have focused on different aspects of the disease to try to find its exact cause and expression. One study examined the specific oral features in one patient.[11] Another found abnormalities in the brain, such as corpus callosum dysgenesis, an under-developed anterior pituitary and a brain stalk with an ectopic neurohypophysis.[12]