Case
SR321
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR321
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Highlighted Images
| Age at visit: 56 years | |
| OD | OS |
|---|---|
History
This 56 year old man first experienced the loss of his central vision at about age 12. He had some reduction of his night vision about the same time. He was noticeably heavier than his siblings in adolescence and had underdeveloped genitalia.
Pedigree
| Age at visit: 56 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS9 | Lys626 del4gaaAAAC | Lys626 del4gaaAAAC | AR |
Disease:
Gene:
Allele 1:
Lys626 del4gaaAAAC
Allele 2:
Lys626 del4gaaAAAC
Inheritance:
AR