RAB3GAP1 and Martsolf syndrome: Hypogonadotropic hypogonadism, mental retardation, and demyelinating peripheral neuropathy have been reported in patients with RAB3GAP1 or RAB3GAP2 mutations [34], but the bilateral cataracts, microphthalmia, and microcornea systematically found in patients with the Warburg Micro and Martsolf syndromes were not observed in this family.