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Disease Atlas
SR533
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StoneRounds
Disease Atlas
SR533
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Case
SR533
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Student Mode
ECORD (IA2c)
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SR533
Change Format
Grid View
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Student Mode
ECORD (IA2c)
Male
Male
Highlighted Images
Age at visit:
14 years
OD
OS
20/32 -1
20/32 -1
Pedigree
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Age at visit:
14 years
OD
OS
20/32 -1
20/32 -1
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OD
OS
20/32 -1
20/32 -1
OD
OS
20/32 -1
20/32 -1
OD
OS
20/32 -1
OCT Stack
20/32 -1
OCT Stack
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OD
OS
20/32 -1
20/32 -1
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Age at visit:
18 years
OD
OS
20/25
20/20 -2
OD
OS
20/25
OCT Stack
20/20 -2
OCT Stack
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OD
OS
20/25
20/20 -2
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Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
ECORD
CRB1
Lys801Stop AAG>TAG
Gly770Ser GGC>AGC
AR
Disease:
ECORD
Gene:
CRB1
Allele 1:
Lys801Stop AAG>TAG
Allele 2:
Gly770Ser GGC>AGC
Inheritance:
AR
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