Craniotubular Dysplasia, Ikegawa Type (CTDI)

Craniotubular Dysplasia, Ikegawa Type, also known as ctdi, is related to tatton-brown-rahman syndrome and turner syndrome. An important gene associated with Craniotubular Dysplasia, Ikegawa Type is TMEM53 (Transmembrane Protein 53), and among its related pathways/superpathways are Translational Control and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. Affiliated tissues include bone and cortex, and related phenotypes are thickened calvaria and visual impairment