PNPLA6 and Trichomegaly - retina pigmentary degeneration - dwarfism: For example, the swiss cheese ortholog PNPLA6 (Patatin-Like Phospholipase Domain-Containing Protein 6) is linked to a number of human diseases that exhibit neurological symptoms including Boucher-Neuhauser syndrome (OMIM #215470), Laurence-Moon syndrome (OMIM #245800), Oliver-McFarlane syndrome (OMIM #275400) and autosomal recessive spastic paraplegia type 39 (OMIM #612020).