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601071.G.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Prelingual sensorineural hearing impairment; Profound sensorineural hearing impairment
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Sex
Unknown
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_194248.2:c.709C>T
10
Deafness, Autosomal Recessive 9
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Remarks
Family of five affected individuals
References
Houseman et al. 2001
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