Case
SR540
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
Hidden
SR540
Student Mode
Bardet Biedl Syndrome (IB2)
Female
Female
History
This 29 year old woman became lost on a nighttime Girl Scout hike at age 12. Her visual acuity worsened around age 21. She reports post axial polydactyly of both hands and one foot.
Pedigree
| Age at visit: 29 years |
| OD | |||
|---|---|---|---|
| Age at visit: 36 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG | Met390Arg ATG>AGG | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Met390Arg ATG>AGG
Inheritance:
AR