Legend (figure 1): Dysmorphism can be subtle and are not homogeneous. Almond-shaped eyes in patients A, E, I, and L; bitemporal narrowing in patients A, E, F, and I, prominent chin in patients C, D, F, J, and K; inverted nipples in patients A and B. Figures A to M (patients 1 to 13; table 1).

Figure 1: Dysmorphism of PMM2-CDG patients.