267750.2

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Country

United Arab Emirates; Yemen

HPO Terms

Myopia; Retinal dystrophy; Esotropia; Chorioretinal atrophy; Macular atrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004525.3:c.7564T>C1
NM_001379500.1:c.1733_1742del2
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Remarks

"Double niece" of 222448.2.6

References

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