605472.2

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_032119.3:c.17756-2239_17856+11701delinsTAGACAGGGTTTCACC2

Remarks

The patient's brother and maternal aunt were similarly affected
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