Fig. 3: Clinical manifestations, age of onset, and survival analyses.

(a,b) Main clinical manifestations reported at onset (a) and overall (b). (c) Linear regression model, including the observed slope (solid line) and the theoretical slope (dashed line) of diagnostic delay. (d–g) Overall survival (d), symptom-free survival (e), and ulcer-free survival for the entire cohort (f) and for missense and loss-of-function (LoF) variants (g).