Individuals with these patterns of malformations (n = 10) had a mean score of 228.9 points, whilst subjects with intercalary transverse defects (n = 14), known as phocomelia, had an average score of 195 points (Table S5).The effect is more significant if we look at the score of CRBN variants separately: pre-axial longitudinal defects were associated to a score of 94.9 vs. 78 points of the intercalary transverse anomalies (p = 0.021) (Table S5). This evidence concerns the gene CRBN and Phocomelia.