601067.1

Country

Lebanon

HPO Terms

Progressive visual loss; Bilateral sensorineural hearing impairment
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_022124.6:c.8803C>T2

Remarks

The patient had a similarly affected sister
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