Case
SR1914
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
Hidden
SR1914
Student Mode
Bardet Biedl Syndrome (IB2)
Male
Male
History
This 11 year old male has had difficulty seeing in dim light his entire life. One year ago abnormal retinal blood vessels were noted on a routine eye exam. He was born with an extra digit on the ulnar side of both hands and both feet and has been treated with growth hormone for an isolated growth hormone deficiency since age 3.
Pedigree
| Age at visit: 11 years |
| Age at visit: 11 years (Visit 2) |
| Age at visit: 12 years |
| Age at visit: 15 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Bardet Biedl Syndrome | BBS10 | Leu90 ins1cT | Leu90 ins1cT | AR |
Disease:
Gene:
Allele 1:
Leu90 ins1cT
Allele 2:
Leu90 ins1cT
Inheritance:
AR