600316.5

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Country

Egypt

HPO Terms

Sensorineural hearing impairment
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_016239.4:c.5886C>A2
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Remarks

Patient from 'family 1' in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
600316.3EgyptBilateral sensorineural hearing impairmentMaleNoYes
600316.4EgyptCongenital sensorineural hearing impairmentUnknown
600316.6EgyptHearing impairmentUnknown
600316.7EgyptHearing impairmentUnknown
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.