Xq21 Microdeletion Syndrome (DEL)

Xq21 Microdeletion Syndrome, also known as ayazi syndrome, is related to chromosome xq21 deletion syndrome. An important gene associated with Xq21 Microdeletion Syndrome is POU3F4 (POU Class 3 Homeobox 4). Affiliated tissues include eye and pituitary, and related phenotypes are sensorineural hearing impairment and choroideremia