Homozygous or compound heterozygous mutations in CSGALNACT1 cause mild skeletal dysplasia, joint laxity, a short stature with an advanced bone age, facial dysmorphism, and mild language delay (Table 2; Vodopiutz et al., 2017; Mizumoto et al., 2020). Here, CSGALNACT1 is linked to skeletal dysplasia.