SR3051

Alagille Syndrome (IB)

Female

Female

SR3051

Alagille Syndrome (IB)

Female

Female

Highlighted Images

Age at visit: 30 years
OD OS

History

This 30 year old woman has had poor vision in her right eye for her entire life and first noticed decreased vision in dim light and constricted fields in her left eye in middle school. She had surgery in infancy for "short gut syndrome" and had liver transplantation at age 3. She also has a history of pulmonary stenosis, scoliosis, and ataxia.

Pedigree

Age at visit: 30 years
Age at visit: 32 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Alagille Syndrome JAG1 Gly193del1tatG   AD
Gene:
Allele 1:
Gly193del1tatG
Allele 2:
 
Inheritance:
AD
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