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StoneRounds Disease Atlas SR1400

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SR1400

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Choroideremia (IIIA1)

Female

Female

SR1400

Ladder View Download View

Choroideremia (IIIA1)

Female

Female

Visit at age: 8 years

Fundus Photography - Right - 20/30 +3

Exemplar

Fundus Photography - Left - 20/20 -3

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Choroideremia CHM Ser7 del12tcGGAGTTTGATGT   XL
Disease:
Choroideremia
Gene:
CHM
Allele 1:
Ser7 del12tcGGAGTTTGATGT
Allele 2:
 
Inheritance:
XL
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