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Disease Atlas
SR185
SR:
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StoneRounds
Disease Atlas
SR185
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Case
SR185
Change Format
Grid View
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Student Mode
ECORD (IA2c)
Male
Male
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SR185
Change Format
Grid View
Download View
Student Mode
ECORD (IA2c)
Male
Male
Highlighted Images
Age at visit:
17 years
OD
OS
20/70 -2
20/80 -1
Pedigree
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Expand Pedigree
Expand Visits
Age at visit:
9 years
OD
OS
20/100
20/125 -1
Show more
Age at visit:
17 years
OD
OS
20/70 -2
20/80 -1
Show more
OD
OS
20/70 -2
20/80 -1
OD
OS
20/70 -2
20/80 -1
OD
OS
20/70 -2
OCT Stack
20/80 -1
OCT Stack
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OD
OS
20/70 -2
20/80 -1
Show more
Age at visit:
19 years
OD
OS
20/100 +1
20/80 -2
OD
OS
20/100 +1
OCT Stack
20/80 -2
OCT Stack
Show more
OD
OS
20/100 +1
20/80 -2
Show more
Age at visit:
22 years
OD
OS
20/100
20/100
OD
OS
20/100
OCT Stack
20/100
OCT Stack
Show more
OD
OS
20/100
20/100
Show more
Age at visit:
25 years
OD
OS
20/63 -1
20/80
OD
OS
20/63 -1
OCT Stack
20/80
OCT Stack
Show more
OD
OS
20/63 -1
20/80
Show more
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
ECORD
CEP290
Leu750Stop TTA>TGA
Gln2350Stop CAG>TAG
AR
Disease:
ECORD
Gene:
CEP290
Allele 1:
Leu750Stop TTA>TGA
Allele 2:
Gln2350Stop CAG>TAG
Inheritance:
AR
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False Genotype Rate:
Gene Count:
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