Age at visit: 56 years | |
OD | OS |
---|---|
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.
Age at visit: 56 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Bardet Biedl Syndrome | BBS9 | Lys626 del4gaaAAAC | Lys626 del4gaaAAAC | AR |