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220290.G.8.1
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Subject Details
Country
Lebanon
HPO Terms
Severe sensorineural hearing impairment
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Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004004.5:c.35del
30+
Deafness, Autosomal Recessive 1A
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Remarks
15 families with at least one affected individual
References
Mustapha et al, 2001
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
220290.G.8.2
Lebanon
300 control subjects
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