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

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

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. [1]

Diagnosis

Treatment

References

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


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

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

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. [1]

Diagnosis

Treatment

References

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



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