These manual tools consisted of scores, decision trees and guidelines for the diagnosis of Marfan syndrome [25, 27], Fabry disease [26], diseases with recurrent wheals or angioedema [50], HNF1B-related disease [32], familial chylomicronemia syndrome [38] and Niemann-Pick disease Type C [39]. The gene discussed is HNF1B; the disease is Niemann-Pick disease type C.