Many positive patients may have been too young (71% under 6 years of age) to develop all pathognomonic NF1 features and post‐testing phenotypes were often unavailable, as we were limited to clinical information acquired via a pretest questionnaire, which may explain why some patients failed to meet NF1 or LS clinical criteria (Tables 1 and 2). The gene discussed is NF1; the disease is neurofibromatosis type 1.