SR51

XL Choroideremia (IIIA1a)

Male

Male

SR51

XL Choroideremia (IIIA1a)

Male

Male

Highlighted Images

Age at visit: 16 years
OD OS

History

This 16 year old male first noticed difficulty seeing in dim movie theaters when he was young child.

Pedigree

Age at visit: 16 years
Age at visit: 17 years
Age at visit: 20 years
Age at visit: 22 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
XL Choroideremia CHM Phe257 del2gagTT   XL
Disease:
Gene:
Allele 1:
Phe257 del2gagTT
Allele 2:
 
Inheritance:
XL
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