Case
SR2842
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR2842
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
History
This 11 year old male has recently had several episodes of running into objects on the playground. His parents also believe that he does not see normally in dim light.
Pedigree
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