Supriya Ghosh (Editor)

Ayazi syndrome

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Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome) is a syndrome characterized by choroideremia, congenital deafness and obesity.

Contents

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.

    References

    Ayazi syndrome Wikipedia