248200.G.2

Country

United Arab Emirates

HPO Terms

Macular atrophy; Reduced visual acuity; Rod-cone dystrophy

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000350.3:c.5882G>A22
NM_000350.3:c.2570T>C22

Remarks

11 patients with childhood-onset form of the disease

References

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