605472.3

Country

Lebanon

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_032119.4:c.16040del2

Remarks

The patient's 3 brothers and 6 extended relatives were similarly affected
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