BACKGROUND: mutation. AIM: mutations have a more severe spectrum of clinical phenotypes compared to those without. METHODS: mutations were compared. RESULTS: mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps. CONCLUSION: mutations might have less severe clinical-pathologic manifestations than those with.