Loss-of-function mutations in GUSB cause an autosomal recessive lysosomal storage disease called mucopolysaccharidosis type VII (MPS VII, https://www.omim.org/entry/253220) (accessed on 18 April 2022), which manifests as skeletal dysplasia, cognitive impairment, heart abnormalities, and hearing loss [30]. Here, GUSB is linked to skeletal dysplasia.