RAB3GAP2 and Martsolf syndrome: The Warburg Micro and Martsolf syndromes were considered the most relevant syndromes for comparison with the phenotype reported here, as these syndromes are caused by mutations affecting the catalytic (RAB3GAP1, p130) and noncatalytic subunits (RAB3GAP2, p150) of RAB3GAP [18],[19], two components of the protein complex containing Rbcn-3α.