SR1071

XL Choroideremia (IIIA1a)

Male

Male

SR1071

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

Age at visit: 15 years
OD OS

Pedigree

Age at visit: 15 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Arg253Stop CGA>TGA   XL
Disease:
Gene:
Allele 1:
Arg253Stop CGA>TGA
Allele 2:
 
Inheritance:
XL
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