Ayazi syndrome

Synonyms

Choroideremia deafness obesity
Choroideremia, obesity, and congenital deafness

Overview

Ayazi syndrome is a syndrome characterized by choroideremia, congenital deafness and obesity.

Symptoms

  • Obesity
  • Sensorineural hearing impairment
  • Deafness at birth
  • Choroideremia
  • Impaired vision
  • Progressive degeneration of the choroid

Causes

Ayazi syndrome's inheritance pattern is described as x-linked recessive. Genes known to be deleted are CHM and POU3F4, both located on the Xq21 locus.

Resources

  • NIH