Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

Alias:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia with joint laxity and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include bone and skin, and related phenotypes are skeletal dysplasia and short stature

Related ID：

MALACARDS：SPN263

OMIM：603546

MESH：D010009