Case
SR645
Student Mode
Wolfram Syndrome (IIIC2a)
Female
Female
Hidden
SR645
Student Mode
Wolfram Syndrome (IIIC2a)
Female
Female
History
This 19 year old woman first noticed difficulty reading when she was about 14 years old. She has been a type I diabetic since age three and began having trouble with her hearing at age 14.
Pedigree
| Age at visit: 19 years |
| Age at visit: 25 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