613763.2.6

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001289808.2:c.166C>T1

Remarks

Father of 613763.2.1.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613763.2.1Saudi ArabiaJuvenile cataractFemaleYesYesPatient had cataract surgery at 11 years of age
613763.2.2Saudi ArabiaJuvenile cataractFemaleYesYesSister of 613763.2.1. Patient had cataract surgery at 1 year of age
613763.2.3Saudi ArabiaJuvenile cataractMaleYesYesBrother of 613763.2.1. Patient had cataract surgery at 1 year of age
613763.2.4Saudi ArabiaFemaleYesYesSister of 613763.2.1 and twin of 613763.2.2. Asymptomatic but found to have central punctate, linear, or wedge-shaped lens opacities by slit-lamp examination
613763.2.5Saudi ArabiaFemaleMother of 613763.2.1. Asymptomatic but found to have few central punctate or wedge-shaped lens opacities by slit-lamp examination
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