Xq21 microdeletion syndrome
Synonyms: Ayazi syndrome | Del(X)(q21) | Monosomy Xq21
An X-linked retinal dystrophy characterized by choroideremia causing in affected males progressive nyctalopia and eventual central blindness. Obesity moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
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Xq21 microdeletion syndrome?
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