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Ayazi syndrome

From Wikipedia, the free encyclopedia
Ayazi syndrome
Other namesChoroideremia-deafness-obesity syndrome
This condition is inherited in an X-linked recessive manner.

Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome)[1] is a syndrome characterized by choroideremia, congenital deafness and obesity.

Signs and symptoms

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The presentation for this condition is as follows:[citation needed]

Genetics

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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.[1]

Diagnosis

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Treatment

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References

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  1. ^ a b "OMIM Entry - # 303110 - CHOROIDEREMIA, DEAFNESS, AND MENTAL RETARDATION". www.omim.org. Retrieved 2015-09-28.
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