Английская Википедия:Ayazi syndrome
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Шаблон:Infobox medical condition (new) 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:Шаблон:Cn
- 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]
Diagnosis
Treatment
References
External links
