Therefore, the mutations of BSCL2 usually induce a variety of serious clinical consequences (Figure 1, Table 1 and Supplementary Table S1), including CGL2 (OMIM #269700; highest prevalence, estimated to be 0.1–5 persons per million [45,58]), PELD (OMIM #615924; only nine patients reported worldwide so far) [59], and BSCL2-associated motor neuron diseases (OMIM #619112 or OMIM #270685; secondary prevalence). Here, GZMH is linked to motor neuron disorder.