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SR428
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Disease Atlas
SR428
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Case
SR428
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Type 2 Usher Syndrome (IB1b)
Female
Female
Hidden
SR428
Change Format
Grid View
Download View
Student Mode
Type 2 Usher Syndrome (IB1b)
Female
Female
Highlighted Images
Age at visit:
33 years
OD
OS
20/40
20/32 -2
Pedigree
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Age at visit:
33 years
OD
OS
20/40
20/32 -2
Show more
OD
OS
20/40
20/32 -2
OD
OS
20/40
20/32 -2
OD
OS
20/40
OCT Stack
20/32 -2
OCT Stack
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OD
OS
20/40
20/32 -2
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Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
Type 2 Usher Syndrome
USH2A
Cys536Arg TGC>CGC
Trp3521Arg TGG>CGG
AR
Disease:
Type 2 Usher Syndrome
Gene:
USH2A
Allele 1:
Cys536Arg TGC>CGC
Allele 2:
Trp3521Arg TGG>CGG
Inheritance:
AR
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