Table 1.

Human disorders caused by mutations of proteoglycan-related genes.

Genes (coded proteins)	Clinical features	References
XylT1 (Xylosyltransferase 1)	Autosomal recessive short stature syndrome; distinct facial features, alteration of fat distribution, intellectual disability	Schreml et al., 2014
B3GALT6 (Galactosyltransferase II)	Pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder; skin fragility, delayed wound healing, joint hyperlaxity, and contractures, muscle hypotonia, spondyloepimetaphyseal dysplasia, intellectual disability	Malfait et al., 2013.
CHSY1 (Chondroitin synthase 1)	Temtamy preaxial brachydactyly syndrome; bilateral preaxial brachydactyly and hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, intellectual disability	Li et al., 2010.
NDST1 (NDST1)	Intellectual disability, muscular hypotonia, epilepsy, postnatal growth deficiency	Reuter et al., 2014.
SPOCK1 (Testican-1)	Intellectual disability, partial agenesis of corpus callosum, prenatal-onset microcephaly, artrial septal defects	Dhamija et al., 2014.
GPC3 (Glypican 3)	Simpson-Golabi-Behmel syndrome type I; pre/postnatal overgrowth, distinctive craniofacial features, macrocephaly, organomegaly. Intellectual disability and epilepsy in some cases	Tenorio et al., 2014.