Case
SR451
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Hidden
SR451
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Highlighted Images
| Age at visit: 42 years | OD | OS |
|---|---|
Pedigree
| Age at visit: 42 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS2 | Asp174Glu GAT>GAA | Arg275Stop CGA>TGA | AR |
Disease:
Gene:
Allele 1:
Asp174Glu GAT>GAA
Allele 2:
Arg275Stop CGA>TGA
Inheritance:
AR