274600.G.1

Country

Tunisia

HPO Terms

Congenital sensorineural hearing impairment; Profound sensorineural hearing impairment; Enlarged vestibular aqueduct
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000441.2:c.1334T>G46

Remarks

Two large consanguineous families comprising of 23 members
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