Clinical and radiographic findings of the 10 DADA2 carriers. (A) Brain MRI of P1 revealing a diffusion-restrictive T2-weighted hyperintense lesion with a focus anteromedially in the left thalamus, indicating a recent ischemic infarct. (B) Clinical image of P5 displaying painful purple-to-red skin discoloration and swelling of the feet. (C) Brain MRI of P6 showing an oval lesion in the right centrum semiovale, hyperintense on T2 and FLAIR, hypointense on T1, with restricted diffusion and a maximum diameter of 11 mm. (D) Fundoscopy of P6. The right eye (oculus dexter, OD) shows retinal vasculitis and retinitis with inferiorly located snowball opacities; the left eye (oculus sinister, OS) shows retinitis and vitritis. (E) Circle diagram illustrating the phenotype distribution by the absolute number of affected patients. (F) Radar graph representing the number of patients affected by various clinical manifestations.