Yr = years; Mo = months; F = Female; M = Male; UA/BA = Unilateral/Bilateral anophthalmia; IBD = Identity by Descent; Cut synd = cutaneous syndactyly; TEV = talipes equinovarus; 2/3 = second and third
Additional file 4. Comparison of clinical features in aniridia, Peters anomaly, and this patient. ✓ = present. n.k. = not known due to corneal opacity.
The ERICA Patient Reported Outcome Measures (PROMs) Repository is the first attempt to identify and centralize Clinical Assessment Outcomes questionnaires of relevance for rare diseases and constitute