SR114

Bardet Biedl Syndrome (IB2)

Male

Male

SR114

Bardet Biedl Syndrome (IB2)

Male

Male

Highlighted Images

Age at visit: 21 years
OD OS

History

This 21 year old man first had difficulty seeing the blackboard in the 5th grade. Two years later he began having difficulty seeing in dim light. In high school he was approximately 50 pounds overweight, but was able to lose that weight with a strict diet.

Pedigree

Age at visit: 21 years
Age at visit: 22 years
Age at visit: 23 years
Age at visit: 27 years
Age at visit: 29 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Bardet Biedl Syndrome BBS1 Met390Arg ATG>AGG Arg277Lys AG(G)>AA(G) AR
Gene:
Allele 1:
Met390Arg ATG>AGG
Allele 2:
Arg277Lys AG(G)>AA(G)
Inheritance:
AR
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