613826.4

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Country

Saudi Arabia

HPO Terms

Progressive visual loss; Nystagmus; Photophobia; Retinal pigment epithelial mottling
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Sex

Female

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_020366.3:c.2662C>T2
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References

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