SR1756

Alagille Syndrome (IB)

Male

Male

SR1756

Alagille Syndrome (IB)

Male

Male

Highlighted Images

Age at visit: 30 years
OD OS

Pedigree

Age at visit: 29 years
Age at visit: 30 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Alagille Syndrome JAG1 Arg231 del2aacAG   AD
Gene:
Allele 1:
Arg231 del2aacAG
Allele 2:
 
Inheritance:
AD
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