Spondylodysplastic Ehlers-Danlos Syndrome (SPEDS)

Alias:

Ehlers-Danlos Syndrome, Spondylodysplastic Type

Ehlers-Danlos, Spondylodysplastic Syndrome

Ehlers-Danlos Syndrome, Progeroid Form

Spondylodysplastic Eds

Speds

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Gene & Mutation

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Spondylodysplastic Ehlers-Danlos Syndrome, also known as ehlers-danlos syndrome, spondylodysplastic type, is related to ehlers-danlos syndrome, spondylodysplastic type, 1 and ehlers-danlos syndrome, spondylodysplastic type, 3. An important gene associated with Spondylodysplastic Ehlers-Danlos Syndrome is B4GALT7 (Beta-1,4-Galactosyltransferase 7). Affiliated tissues include skin and bone, and related phenotypes are kyphoscoliosis and generalized joint laxity

Related ID：

MALACARDS：SPN370