TRNT1 and hyperinsulinemic hypoglycemia, familial, 4: In addition, some defects are associated with specific clinical manifestations, such as hamartoma and macrocephaly in PTEN deficiency, sideroblastic anemia and progressive developmental delay in TRNT1 deficiency, and severe neurologic disease and dysmorphic facial features in mannosyl-oligosaccharide glucosidase deficiency (58, 111, 112).