276900.3

Country

Jordan

HPO Terms

Progressive visual loss; Bilateral sensorineural hearing impairment
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000260.3:c.462C>A2

Remarks

The patient had a similarly affected sister as well as 6 affected relatives.
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