SR645

Wolfram Syndrome (IIIC2a)

Female

Female

SR645

Wolfram Syndrome (IIIC2a)

Female

Female

Highlighted Images

Age at visit: 19 years
OD OS

Age at visit: 18 years
Age at visit: 19 years
Age at visit: 19 years (Visit 2)
Age at visit: 20 years
Age at visit: 21 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Wolfram Syndrome WFS1 Tyr291 ins1taC Trp613Stop TGG>TGA AR
Disease:
Gene:
Allele 1:
Tyr291 ins1taC
Allele 2:
Trp613Stop TGG>TGA
Inheritance:
AR
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