Ayazi syndrome
From Infogalactic: the planetary knowledge core
Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome)[1] 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.[1]
References
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- http://www.wrongdiagnosis.com/a/ayazi_syndrome/symptoms.htm
External links
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