611544.5

Country

Saudi Arabia

HPO Terms

Pulverulent cataract; Reduced visual acuity; Exotropia
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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

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
611544.2Saudi ArabiaPulverulent cataract; Reduced visual acuityMaleNoYesCataract surgery done at 6 years of age did not improve visual acuity
611544.4Saudi ArabiaPulverulent cataract; Reduced visual acuity; EsotropiaMaleNoNo
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