248200.G.4

Country

United Arab Emirates

HPO Terms

Macular atrophy; Reduced visual acuity
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Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000350.3:c.5882G>A2
NM_000350.3:c.2570T>C2

Remarks

2 related patients (siblings) with adult-onset form of the disease

References

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