611544.10.1

Country

Saudi Arabia

HPO Terms

Pulverulent cataract; Reduced visual acuity
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001887.4:c.171del2

Remarks

Subject had a "dull red reflex from ametropia but excellent with refractive correction".

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
611544.10.2Saudi ArabiaMaleFather of 611544.10.1. Subject had occasional central dot lenticular opacities within the lens nucleus
611544.10.3Saudi ArabiaMaleBrother of 611544.10.1. Subject had occasional central dot lenticular opacities within the lens nucleus
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