220400.3.1

Country

Saudi Arabia

HPO Terms

Sensorineural hearing impairment; Syncope; Prolonged QTc interval
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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>A2NA

Remarks

Proband from 'Family B' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
220400.3.2Saudi ArabiaMaleYesNoSon of 220400.3.1
220400.3.3Saudi ArabiaFemaleYesNoDaughter of 220400.3.1
220400.3.4Saudi ArabiaFemaleYesNoDaughter of 220400.3.1
220400.3.5Saudi ArabiaMaleYesNoSon of 220400.3.1
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