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StoneRounds Disease Atlas SR43

SR43

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SECORD (IA2b)

Female

Female

SR43

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SECORD (IA2b)

Female

Female

Highlighted Images

Age at visit: 8 years
OD OS
10/100 -2 sc
10/125 -1 sc

Pedigree

Age at visit: 21 months
Age at visit: 2 years
Age at visit: 5 years
Age at visit: 6 years
Age at visit: 7 years
Age at visit: 8 years
Age at visit: 9 years
Age at visit: 11 years
Age at visit: 14 years
Age at visit: 16 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
SECORD RDH12 Ala269 del5tgcGCCCT Ala269 del5tgcGCCCT AR
Disease:
SECORD
Gene:
RDH12
Allele 1:
Ala269 del5tgcGCCCT
Allele 2:
Ala269 del5tgcGCCCT
Inheritance:
AR
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