601869.1.1

Country

Saudi Arabia

HPO Terms

Bilateral sensorineural hearing impairment
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_133261.3:c.122C>A2

Remarks

Proband from "family F-15" in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
601869.1.GSaudi ArabiaRelatives of 601869.1.1 (parents+sister)
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