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274600.G.1
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Subject Details
Country
Tunisia
HPO Terms
Congenital sensorineural hearing impairment; Profound sensorineural hearing impairment; Enlarged vestibular aqueduct
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000441.2:c.1334T>G
46
Pendred Syndrome
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Remarks
Two large consanguineous families comprising of 23 members
References
Masmoudi et al. 2000
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