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Choroideremia-deafness-obesity syndrome
rareChoroideremia-deafness-obesity syndrome is 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.
- Identifiers
- MONDO:0010558 OMIM:303110Orphanet:1435
- Part of
- Inherited retinal dystrophy
- Also known as
- Ayazi syndrome · choroideremia deafness obesity · choroideremia, deafness, and mental retardation · choroideremia, obesity, and congenital deafness · Xq21 deletion syndrome, X-linked recessive
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