605472.5.1

Country

United Arab Emirates

HPO Terms

Hearing impairment; Nyctalopia
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_032119.4:c.10054-2A>G2

Remarks

Patient from 'family 4' in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
605472.5.2United Arab EmiratesHearing impairment; NyctalopiaFemaleYesSister of 605472.5.1
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