Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)

Spondyloepimetaphyseal Dysplasia, X-Linked, also known as x-linked spondyloepimetaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia and spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophy. An important gene associated with Spondyloepimetaphyseal Dysplasia, X-Linked is BGN (Biglycan), and among its related pathways/superpathways are Ciliary landscape and Intraflagellar transport. Affiliated tissues include bone and tongue, and related phenotypes are waddling gait and brachydactyly