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StoneRounds Disease Atlas SR1073

SR1073

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XL Choroideremia (IIIA1a)

Male

Male

SR1073

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XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

Age at visit: 14 years
OD OS
20/30 +2 sc
20/20 -1 sc

Pedigree

Age at visit: 14 years
Age at visit: 28 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Deletion Exons 9-15   XL
Disease:
XL Choroideremia
Gene:
CHM
Allele 1:
Deletion Exons 9-15
Allele 2:
 
Inheritance:
XL
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