116700.1.1

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_145649.5:c.1046A>G2

Remarks

Patient had "lensectomy and anterior vitrectomy within the first month of life for complete white cataract".

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
116700.1.2Saudi ArabiaDevelopmental cataractFemaleYesYesSister of 116700.1.1. Patient had "lensectomy and anterior vitrectomy within the first month of life for complete white cataract".
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