Condition: Schwartz-Jampel Syndrome, Type 1


rs137853248 in HSPG2 gene and Schwartz-Jampel Syndrome, Type 1 PMID 11101850 2000 Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).