248200.G.3

Country

United Arab Emirates

HPO Terms

Macular atrophy; Reduced visual acuity; Rod-cone dystrophy
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000350.3:c.3623T>G4

Remarks

2 related patients (cousins) with childhood-onset form of the disease

References

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