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StoneRounds Disease Atlas SR1984

SR1984

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Norrie Disease (IIIE2a)

Male

Male

SR1984

Ladder View Download View

Norrie Disease (IIIE2a)

Male

Male

Visit at age: 32 years

Fundus Photography - Right - 20/30 +2

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Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Norrie Disease NDP Gly112Glu GGG>GAG   XL
Disease:
Norrie Disease
Gene:
NDP
Allele 1:
Gly112Glu GGG>GAG
Allele 2:
 
Inheritance:
XL
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