276902.1.1

Country

Lebanon

HPO Terms

Rod-cone dystrophy; Profound hearing impairment
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_174878.3:c.301_305del2

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
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
276902.1.5LebanonFemaleYesUnaffected mother 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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