Case
SR321
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR321
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Visit at age: 56 years
Fundus Photography - Right - Hand Motion sc
Exemplar
Fundus Photography - Left - Hand Motion sc
Exemplar
Optical Coherence Tomography - Right - Hand Motion sc
Exemplar
Optical Coherence Tomography - Left - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Right - Hand Motion sc
Exemplar
Infrared Fundus Photograph - Left - Hand Motion sc
Exemplar
Case Level Images
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