Case
SR1897
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR1897
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Pedigree
| Age at visit: 42 years |
| Age at visit: 46 years |
| OD | OS | ||
|---|---|---|---|
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS10 | Leu90 ins1cT | Leu414Ser TTA>TCA | AR |
Disease:
Gene:
Allele 1:
Leu90 ins1cT
Allele 2:
Leu414Ser TTA>TCA
Inheritance:
AR