Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type (SEMDIST)

Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type, also known as semdist, is related to asplenia, isolated congenital and spondyloepimetaphyseal dysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type is RPL13 (Ribosomal Protein L13). Affiliated tissues include bone, and related phenotypes are platyspondyly and genu varum