600060.G.1

Country

United Arab Emirates

HPO Terms

Congenital sensorineural hearing impairment

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000260.4:c.223G>T2

Remarks

Three patients

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600060.G.2United Arab EmiratesCongenital sensorineural hearing impairmentUnknownTwo patients with deafness exhibiting a large deletion in MYO7A encompassing exon 40 partially and all of exon 41
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