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276900.7
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Subject Details
Country
United Arab Emirates
HPO Terms
Hearing impairment; Retinal vascular proliferation; Glaucoma; Nyctalopia
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Sex
Female
Family History
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000260.4:c.223G>T
2
Usher Syndrome Type I
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Remarks
Patient from 'family 2' in the publication. Patient has an affected cousin.
References
Khan. 2024
Related Subjects
Subject Id
Country
HPO Terms
Sex
Family History
Parental Consanguinity
Remarks
276900.5
United Arab Emirates
Retinal dystrophy
Unknown
No
276900.8
United Arab Emirates
Nyctalopia; Hearing impairment; Visual impairment
Male
Patient from 'family 3' in the publication
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