Loss-of-function mutations in Rab3GAP1 and Rab3GAP2 produce clinically almost indistinguishable conditions, Warburg Micro syndrome and Martsolf syndrome, characterized by brain, eye, and endocrine abnormalities (Aligianis et al., 2005, 2006). Here, RAB3GAP1 is linked to Cataract - intellectual disability - hypogonadism.