600970.2

Country

United Arab Emirates

HPO Terms

Hearing impairment

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004999.4:c.3019C>T1
NM_001384474.1:c.4519G>A1

Remarks

Patient has heterozygous variants in MYO6 and LOXHD1. Both of these genes are hearing loss-associated.

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600970.1United Arab EmiratesHearing impairmentUnknownPatient has heterozygous variants in MYO6 and USH1C. Both of these genes are hearing loss-associated.
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