302350.1.G.1

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Country

Saudi Arabia

HPO Terms

Abnormal facial shape
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001291867.2:c.2295del4
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Remarks

4 asymptomatic females with bilateral lens opacities centered on Y-sutures. Subjects belong to the same family as 302350.1.1. (2 sisters and 2 nieces)

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.