600974.8.1

Country

United Arab Emirates

HPO Terms

Profound hearing impairment
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138691.3:c.596A>T2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600974.8.2United Arab EmiratesProfound hearing impairmentFemaleYesYesSibling of 600974.8.1
600974.8.3United Arab EmiratesProfound hearing impairmentMaleYesYesSibling of 600974.8.1
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