Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

脊椎干骺端发育不良并关节松脱2型(来自ICD-11)

别称:

Semdjl2

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type

Spondyloepimetaphyseal Dysplasia with Multiple Dislocations

Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2

Spondyloepimetaphyseal Dysplasia with Joint Laxicity, Hall Type

Semd-Md

Spondyloepimetaphyseal Dysplasia with Joint Laxity Leptodactylic Type

Spondyloepimetaphyseal Dysplasia with Multiple Dislocations Hall Type

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type

Spondyloepimetaphyseal Dysplasia with Joint Laxity Hall Type

Spondyloepimetaphyseal Dysplasia with Joint Laxity, 2

Dysplasia, Spondyloepimetaphyseal, with Joint Laxity

Lepto-Semdjl

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊柱-骨骺-关节松弛症伴关节松弛和挛缩、翼状胬肉、脊柱-骨骺-关节融合综合征1a相关，也称为semdjl2。与脊柱-骨骺-关节松弛症伴关节松弛和挛缩、翼状胬肉、脊柱-骨骺-关节融合综合征1a相关的基因是KIF22（Kinesin Family Member 22）。相关组织包括骨和皮肤，相关表型为骨骼发育不良和矮小。

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