274600.3.1

Country

United Arab Emirates

HPO Terms

Hearing impairment; Hypothyroidism
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000441.2:c.1150G>C2

Remarks

Proband

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
274600.3.2United Arab EmiratesHearing impairment; HypothyroidismMaleYesYesSibling of proband
274600.3.3United Arab EmiratesHearing impairment; HypothyroidismMaleYesYesSibling of proband
274600.3.4United Arab EmiratesFemaleMother of proband
274600.3.5United Arab EmiratesMaleFather of proband
274600.3.GUnited Arab EmiratesUnknownYesFive siblings heterozygous for the variant
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