220400.1.4

Country

Saudi Arabia

HPO Terms

Prolonged QTc interval
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Sex

Female

Family History

No

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000218.2:c.820_830del1NA

Remarks

Sister of 220400.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
220400.1.1Saudi ArabiaSevere sensorineural hearing impairment; Prolonged QTc intervalFemaleNoNoProband [also included in Al-Aama JY et al. 2015 as proband from Family E]
220400.1.2Saudi ArabiaProlonged QTc intervalFemaleNoNoMother of 220400.1.1
220400.1.3Saudi ArabiaMaleNoNoBrother of 220400.1.1
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