SR533

ECORD (IA2c)

Male

Male

SR533

ECORD (IA2c)

Male

Male

Highlighted Images

Age at visit: 14 years
OD OS

Pedigree

Age at visit: 14 years
Age at visit: 18 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
ECORD CRB1 Lys801Stop AAG>TAG Gly770Ser GGC>AGC AR
Disease:
Gene:
Allele 1:
Lys801Stop AAG>TAG
Allele 2:
Gly770Ser GGC>AGC
Inheritance:
AR
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