276902.1.5

Country

Lebanon
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Sex

Female

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_174878.3:c.301_305del1

Remarks

Unaffected mother of 276902.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
276902.1.1LebanonRod-cone dystrophy; Profound hearing impairmentMaleYesNo
276902.1.2LebanonRod-cone dystrophy; Profound hearing impairmentMaleYesNoBrother of 276902.1.1
276902.1.3LebanonFemaleYesUnaffected maternal grandmother of 276902.1.1
276902.1.4LebanonMaleYesUnaffected father of 276902.1.1
276902.1.6LebanonFemaleYesNoUnaffected sister of 276902.1.1
276902.1.7LebanonFemaleYesNoUnaffected sister of 276902.1.1
276902.1.8LebanonMaleYesNoUnaffected brother of 276902.1.1
276902.1.9LebanonMaleYesNoUnaffected brother of 276902.1.1
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