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Disease Atlas
SR1207
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Disease Atlas
SR1207
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Case
SR1207
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Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Hidden
SR1207
Change Format
Grid View
Download View
Student Mode
XL Cone and Cone Rod Dystrophy (IA1bi)
Male
Male
Highlighted Images
Age at visit:
29 years
OD
OS
20/125 -1
10/350 sc
Pedigree
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Age at visit:
27 years
OD
OS
20/50 -2
10/300 sc
Show more
OD
OS
20/50 -2
10/300 sc
OD
OS
20/50 -2
10/300 sc
OD
OS
20/50 -2
OCT Stack
10/300 sc
OCT Stack
Show more
OD
OS
20/50 -2
10/300 sc
Show more
OD
OS
20/50 -2
10/300 sc
Age at visit:
28 years
OD
OS
20/125
10/300 sc
OD
OS
20/125
OCT Stack
10/300 sc
OCT Stack
Show more
OD
OS
20/125
10/300 sc
Show more
Age at visit:
29 years
OD
OS
20/125 -1
10/350 sc
OD
OS
20/125 -1
OCT Stack
10/350 sc
OCT Stack
Show more
OD
OS
20/125 -1
10/350 sc
Show more
Age at visit:
30 years
OD
OS
20/100
10/300 sc
OD
OS
20/100
OCT Stack
10/300 sc
OCT Stack
Show more
OD
OS
20/100
10/300 sc
Show more
Diagnosis & molecular findings
Disease
Gene
Allele 1 variant(s)
Allele 2 variant(s)
Inheritance mode
XL Cone and Cone Rod Dystrophy
RPGR
Arg1059 del2aacAG
XL
Disease:
XL Cone and Cone Rod Dystrophy
Gene:
RPGR
Allele 1:
Arg1059 del2aacAG
Allele 2:
Inheritance:
XL
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False Genotype Rate:
Gene Count:
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