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601067.1
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Subject Details
Country
Lebanon
HPO Terms
Progressive visual loss; Bilateral sensorineural hearing impairment
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022124.6:c.8803C>T
2
Usher Syndrome, Type ID
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Remarks
The patient had a similarly affected sister
References
Reddy et al. 2014
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