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601071.G.1
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Subject Details
Country
Lebanon
HPO Terms
Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_194248.2:c.4491T>A
16
Deafness, Autosomal Recessive 9
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Remarks
8 patients from 2 unrelated families
References
Yasunaga et al. 1999
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