600974.7

Country

United Arab Emirates

HPO Terms

Hearing impairment
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138691.2:c.100C>T2

Remarks

At least 2 affected families with the same mutation

References

  • Alobathani et al. 2018

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600974.GUnited Arab EmiratesCongenital sensorineural hearing impairmentUnknownFive individuals with no other information provided
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