SR699

Best Disease (IIB)

Male

Male

SR699

Best Disease (IIB)

Male

Male

Highlighted Images

Age at visit: 18 years
OD OS

Pedigree

Age at visit: 5 years
Age at visit: 12 years
Age at visit: 14 years
Age at visit: 16 years
Age at visit: 18 years
Age at visit: 21 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Best Disease BEST1 Tyr227Asn TAC>AAC   AD
Disease:
Gene:
Allele 1:
Tyr227Asn TAC>AAC
Allele 2:
 
Inheritance:
AD
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