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StoneRounds Disease Atlas SR716

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SR716

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Joubert Syndrome (IB5)

Male

Male

SR716

Ladder View Download View

Joubert Syndrome (IB5)

Male

Male

Visit at age: 16 years

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OCT Stack

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OCT Stack

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Visit at age: 16 years (Visit 2)

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OCT Stack

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OCT Stack

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Visit at age: 16 years (Visit 3)

Optical Coherence Tomography - Right - 20/40 +2

Exemplar / OCT Stack
OCT Stack

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OCT Stack

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Visit at age: 17 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 17 years (Visit 2)

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Optical Coherence Tomography - Right - 20/30 -1

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 17 years (Visit 3)

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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: 18 years

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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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Exemplar / OCT Stack
OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 20 years

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OCT Stack
OCT Stack

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OCT Stack
OCT Stack

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Visit at age: 23 years

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OCT Stack
OCT Stack

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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
Joubert Syndrome INPP5E Pro315Leu CCG>CTG Arg592Gly CGG>GGG AR
Disease:
Joubert Syndrome
Gene:
INPP5E
Allele 1:
Pro315Leu CCG>CTG
Allele 2:
Arg592Gly CGG>GGG
Inheritance:
AR
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