Ehlers-Danlos Syndrome With Progressive Kyphoscoliosis, Myopathy, And Hearing Loss

About the Disease
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2, also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, is related to ullrich congenital muscular dystrophy 1 and hypermobile ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 is FKBP14 (FKBP Prolyl Isomerase 14). Affiliated tissues include skin, skeletal muscle and bone, and related phenotypes are pes planus and sensorineural hearing impairment

Common Targets
ZNF469 | PRDM5

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