213700.1.2

Country

Saudi Arabia

HPO Terms

Reduced visual acuity; Posterior capsular cataract; Diarrhea
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000784.4:c.1263+1G>A2

Remarks

Sister of 213700.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
213700.1.1Saudi ArabiaPseudophakia; Reduced visual acuity; Posterior capsular cataract; Diarrhea; Lower limb pain; Personality changesFemaleYesYes
213700.1.3Saudi ArabiaReduced visual acuity; Posterior capsular cataract; DiarrheaMaleYesYesBrother of 213700.1.1
213700.1.4Saudi ArabiaMaleFather of 213700.1.1. "Slit-lamp examination revealed a prominent lens anterior Y-suture with a few adjacent fleck-like opacities".
213700.1.5Saudi ArabiaFemaleMother of 213700.1.1. "Slit-lamp examination revealed a few fleck-like opacities at or near the lens anterior Y-suture".
213700.1.6Saudi ArabiaFemaleSister of 213700.1.1. "There were no fleck (or other significant) lens opacities by slit lamp examination".
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