Case
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Pedigree
| Age at visit: 14 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS1 | Met390Arg ATG>AGG | Leu75 del2ccaCT | AR |
Disease:
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Leu75 del2ccaCT
Inheritance:
AR