Figure 2. Protein structure and distribution of variants in the C12orf65 gene. The yellow boxes represent the variants described in patients with mild phenotypes, the red boxes the variants in patients with severe phenotype, and the green boxes the variants in patients in whom it was not possible to classify disease severity based on the available clinical information. If just one variant is associated with one patient it was found in the homozygous state; two variants linked to one patient indicates compound heterozygosis. Patients are numbered as in Table S1 ^{(164.1KB, pdf)} .