Case
SR597
Student Mode
Cohen Syndrome (IB9)
Female
Female
Hidden
SR597
Student Mode
Cohen Syndrome (IB9)
Female
Female
Visit at age: 33 years
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Visit at age: 33 years (Visit 2)
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Visit at age: 34 years
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OCT Stack
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OCT Stack
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Visit at age: 35 years
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Visit at age: 38 years
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OCT Stack
OCT Stack
OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 40 years
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OCT Stack
OCT Stack
OCT Stack
OCT Stack
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OCT Stack
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Visit at age: 42 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 |
|---|---|---|---|---|
| Cohen Syndrome | VPS13B | Deletion Exon 8 | Deletion Exon 8 | AR |
Disease:
Gene:
Allele 1:
Deletion Exon 8
Allele 2:
Deletion Exon 8
Inheritance:
AR