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StoneRounds Disease Atlas SR40

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SR40

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Senior-Loken Syndrome (IB4)

Female

Female

SR40

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Senior-Loken Syndrome (IB4)

Female

Female

Visit at age: 5 years

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Visit at age: 6 years

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Visit at age: 7 years

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Visit at age: 8 years

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Visit at age: 8 years (Visit 2)

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Visit at age: 10 years

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Visit at age: 10 years (Visit 2)

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OCT Stack

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OCT Stack

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Visit at age: 11 years

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OCT Stack

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OCT Stack

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Visit at age: 14 years

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OCT Stack
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OCT Stack

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Visit at age: 17 years

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Goldmann Visual Field - Left - 20/40

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Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 19 years

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OCT Stack
OCT Stack

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Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Senior-Loken Syndrome IFT140 IVS29-2 A>G Gly212Arg G(GG)>A(GG) AR
Disease:
Senior-Loken Syndrome
Gene:
IFT140
Allele 1:
IVS29-2 A>G
Allele 2:
Gly212Arg G(GG)>A(GG)
Inheritance:
AR
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