611131.2.1

Country

Palestine

HPO Terms

Rod-cone dystrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_014249.4:c.932G>A2

Remarks

The patient had a maternal aunt and 3 male maternal first cousins that were similarly affected.
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