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601386.2
Home
Subject Details
Country
United Arab Emirates
HPO Terms
Sensorineural hearing impairment
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Sex
Unknown
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_022124.6:c.5237G>A
2
Deafness, Autosomal Recessive 12
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Remarks
Data on parents unavailable.
References
Elsayed O and Al-Shamsi A. 2022
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
601386.3
United Arab Emirates
Sensorineural hearing impairment
Female
No
Patient from 'family 7' in the publication
601386.4
United Arab Emirates
Hearing impairment
Unknown
601386.5
United Arab Emirates
Hearing impairment
Unknown
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