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StoneRounds Disease Atlas SR1744

SR1744

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

SR1744

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XL Retinitis Pigmentosa (IA1ai)

Female

Female

Highlighted Images

Age at visit: 31 years
OD OS
20/20 -1
20/20

Pedigree

Age at visit: 31 years
Age at visit: 38 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Retinitis Pigmentosa RP2 Gln229 del5cAGAAG   XL
Disease:
XL Retinitis Pigmentosa
Gene:
RP2
Allele 1:
Gln229 del5cAGAAG
Allele 2:
 
Inheritance:
XL
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