Ayazi syndrome
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1435
Definition
Choroideremia-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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
80%-99% of people have these symptoms.
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| Choroideremia |
| Chorioretinal degeneration |
30%-79% of people have these symptoms.
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5%-29% of people have these symptoms.
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| Cerebral hemorrhage |
| Dysdiadochokinesis |
| Autophagic vacuoles |
| Pachygyria |
| Hypertension |
| Nystagmus |
| Strabismus |
| Renal artery stenosis |
| Seizures |
| Upper limb muscle weakness |
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
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