Of note, mutations in Rab3GAP2 have also been involved in the Martsolf syndrome and mutations in Rab3GAP2, Rab3GAP1 and Rab18 can give rise to the Warburg micro syndrome (clinically overlapping with the Martsolf syndrome and characterized by brain, eyes and endocrine abnormalities), further showing a link between these three proteins [68,177,178]. The gene discussed is RAB18; the disease is Martsolf syndrome.