220400.3.4

Country

Saudi Arabia
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000218.2:c.604G>A1NA

Remarks

Daughter of 220400.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
220400.3.1Saudi ArabiaSensorineural hearing impairment; Syncope; Prolonged QTc intervalFemaleYesNoProband from 'Family B' in the publication
220400.3.2Saudi ArabiaMaleYesNoSon of 220400.3.1
220400.3.3Saudi ArabiaFemaleYesNoDaughter of 220400.3.1
220400.3.5Saudi ArabiaMaleYesNoSon of 220400.3.1
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