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220290.G.1
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Subject Details
Country
Jordan
HPO Terms
Prelingual sensorineural hearing impairment
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Sex
Unknown
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004004.5:c.35del
22
NA
Deafness, Autosomal Recessive 1A
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Remarks
11 patients from 68 unrelated consanguineous families
References
Medlej-Hashim et al. 2002
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