612674.1.3

Country

Lebanon
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001042472.3:c.193C>T1

Remarks

Unaffected father of 612674.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612674.1.1LebanonSensorineural hearing impairment; Rod-cone dystrophy; Cataract; AtaxiaFemaleYesYes
612674.1.2LebanonSensorineural hearing impairment; Rod-cone dystrophy; Cataract; AtaxiaMaleYesYesBrother of 612674.1.1
612674.1.4LebanonFemaleYesUnaffected mother of 612674.1.1
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