600060.G.2

Country

United Arab Emirates

HPO Terms

Congenital sensorineural hearing impairment

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NC_000011.10:g.76917135_769172554

Remarks

Two patients with deafness exhibiting a large deletion in MYO7A encompassing exon 40 partially and all of exon 41

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600060.G.1United Arab EmiratesCongenital sensorineural hearing impairmentUnknownThree patients
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