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ENEhlers-Danlos Syndrome, Kyphoscoliotic Type, 2 (EDSKSCL2)
Alias:
Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Ehlers-Danlos Syndrome Kyphoscoliotic Type 2
Edskscl2
Edskmh
Ehlers-Danlos Syndrome, with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Hearing Loss
Ehlers-Danlos Syndrome with Kyphoscoliosis, Myopathy, and Deafness
Kyphoscoliotic Ehlers-Danlos Syndrome Due to Fkbp22 Deficiency
Ehlers-Danlos Syndrome, Kyphoscoliotic and Deafness Type
Ehlers-Danlos Syndrome, Kyphoscoliotic, Type 2
Kyphoscoliotic Eds Due to Fkbp22 Deficiency
Fkbp22-Deficient Eds
Fkbp14-Related Eds
Keds-Fkbp14
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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 muscular dystrophy, congenital, lmna-related. An important gene associated with Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 is FKBP14 (FKBP Prolyl Isomerase 14). Affiliated tissues include skin and skeletal muscle, and related phenotypes are pes planus and sensorineural hearing impairment
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