613826.7

Country

Saudi Arabia

HPO Terms

Reduced visual acuity; Nystagmus; 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.1107del2
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