Figure 4

Diagnostic Time Lag (DTL) in several Rare Diseases. In Y-axis, the DTL is shown for the following rare diseases: FMF = Familial Mediterranean Fever [9]; A1-ATD = Alfa-1 Antitrypsin Deficiency [10]; RP = Relapsing Polychondritis [11]; ALS = Amyotrophic Lateral Sclerosis [9]; MarS = Marfan Syndrome [12]; PWS = Prader-Willi Syndrome [12]; DMD = Duchenne Muscular Dystrophy [12]; CF = Cystic Fibrosis [12]; CrD = Crohn’s Disease [12]; TS = Tuberous Sclerosis [12]; EDS = Ehlers-Danlos Syndrome [12]; FXS = Fragile-X Syndrome [12]; HHT = Hereditary Haemorrhagic Telangiectasia (this work).