Ehlers-Danlos Syndrome, Musculocontractural Type, 2 (EDSMC2)

Ehlers-Danlos Syndrome, Musculocontractural Type, 2, also known as ehlers-danlos syndrome, musculocontractural type 2, is related to spondyloepimetaphyseal dysplasia with joint laxity and albinism, ocular, with late-onset sensorineural deafness, and has symptoms including generalized muscle weakness An important gene associated with Ehlers-Danlos Syndrome, Musculocontractural Type, 2 is DSE (Dermatan Sulfate Epimerase), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Chondroitin sulfate/dermatan sulfate metabolism. Affiliated tissues include skin, and related phenotypes are frontal bossing and high palate