276904.1.1

Country

Lebanon

HPO Terms

Profound hearing impairment; Blindness
Back to search Result
Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001297764.2:c.497-2del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
276904.1.2LebanonProfound hearing impairment; BlindnessFemaleYesYesSister of 276904.1.1
276904.1.3LebanonProfound hearing impairment; BlindnessMaleYesYesBrother of 276904.1.1
276904.1.4LebanonMaleYesUnaffected father of 276904.1.1
276904.1.5LebanonFemaleYesUnaffected mother of 276904.1.1
276904.1.6LebanonMaleYesUnaffected brother of 276904.1.1
276904.1.7LebanonFemaleYesUnaffected sister of 276904.1.1
276904.1.8LebanonFemaleYesUnaffected sister of 276904.1.1
Back to search Result
© CAGS 2024. All rights reserved.