These genes are associated with skeletal dysplasias, including progressive pseudorheumatoid dysplasia (WISP3), Joubert syndrome and ciliopathies (CSPP1), mucolipidosis types II/III (GNPTAB), and Larsen syndrome or other spondyloepiphyseal dysplasias (FLNB) [34]. This evidence concerns the gene GNPTAB and mucolipidosis type II.