Ohdo Syndrome, X-Linked (OHDOX)

Ohdo Syndrome, X-Linked, also known as blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, is related to ohdo syndrome and blepharophimosis. An important gene associated with Ohdo Syndrome, X-Linked is MED12 (Mediator Complex Subunit 12). Affiliated tissues include eye, and related phenotypes are intellectual disability and coarse facial features