Ayazi Syndrome
Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) is a syndrome characterized by choroideremia, congenital deafness and obesity.
Signs and symptoms
- Mental retardation
- Deafness at birth
- Obesity
- Choroideremia
- Impaired vision
- Progressive degeneration of the choroid
Genetics
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.