Spondyloepiphyseal Dysplasia, Nishimura Type (SEDN)

Spondyloepiphyseal Dysplasia, Nishimura Type, also known as spondyloepiphyseal dysplasia nishimura type, is related to spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome and bone deterioration disease. An important gene associated with Spondyloepiphyseal Dysplasia, Nishimura Type is MIR140 (MicroRNA 140), and among its related pathways/superpathways are ECM proteoglycans and Role of hypoxia, angiogenesis, and FGF pathway in OA chondrocyte hypertrophy. Affiliated tissues include bone and skeletal muscle, and related phenotypes are intellectual disability and recurrent respiratory infections