276900.2

Country

Egypt

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_000260.4:c.2863G>A2

Remarks

The patient had 2 similarly affected brothers
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