SR1931

Best Disease (IIB)

Male

Male

SR1931

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 23 years
OD OS

Pedigree

Age at visit: 8 years
Age at visit: 9 years
Age at visit: 14 years
Age at visit: 16 years
Age at visit: 17 years
Age at visit: 18 years
Age at visit: 20 years
Age at visit: 21 years
Age at visit: 22 years
Age at visit: 23 years
Age at visit: 24 years
Age at visit: 24 years (Visit 2)
Age at visit: 24 years (Visit 3)
Age at visit: 25 years
Age at visit: 26 years
Age at visit: 27 years
Age at visit: 28 years
Age at visit: 28 years (Visit 2)
Age at visit: 29 years
Age at visit: 30 years
Age at visit: 30 years (Visit 2)
Age at visit: 31 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Asp302Ala GAT>GCT   AD
Disease:
Gene:
Allele 1:
Asp302Ala GAT>GCT
Allele 2:
 
Inheritance:
AD
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