Case
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR343
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
History
This 14 year old male has had difficulty seeing in dim light since early childhood. He had strabismus surgery at age 2. He had postaxial polydactyly of both hands and both feet. He weighed 180 pounds at age 14.
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