600881.1.1

Country

Saudi Arabia

HPO Terms

Developmental cataract
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_005208.5:c.588_591del2

Remarks

Patient had lens aspiration and anterior vitrectomy in both eyes within the first few months of life for congenital total white cataract.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600881.1.2Saudi ArabiaDevelopmental cataractMaleYesYesBrother of 600881.1.1. Patient had lens aspiration and anterior vitrectomy in both eyes within the first few months of life for congenital total white cataract.
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