600791.2.2

Country

United Arab Emirates

HPO Terms

Severe hearing impairment
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000441.2:c.716T>A2

Remarks

Sibling of proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600791.2.1United Arab EmiratesSevere hearing impairmentFemaleYesYesProband
600791.2.3United Arab EmiratesSevere hearing impairmentMaleYesYesSibling of proband
600791.2.4United Arab EmiratesSevere hearing impairmentMaleYesYesSibling of proband
600791.2.5United Arab EmiratesUnknownYesHealthy sibling of proband
600791.2.6United Arab EmiratesUnknownYesHealthy sibling of proband
600791.2.7United Arab EmiratesFemaleMother of proband
600791.2.8United Arab EmiratesMaleFather of proband
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