220400.4.1

Country

Saudi Arabia

HPO Terms

Sensorineural hearing impairment; Syncope; Prolonged QTc interval
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000218.3:c.1484_1485CT[1]2NA

Remarks

Proband from 'Family C' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
220400.4.2Saudi ArabiaMaleNoNoFather of 220400.4.1, minor QTc prolongation noted
220400.4.3Saudi ArabiaFemaleNoNoMother of 220400.4.1
220400.4.4Saudi ArabiaMaleYesYesBrother of 220400.4.1
220400.4.5Saudi ArabiaFemaleYesYesSister of 220400.4.1, minor QTc prolongation noted
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