Phenotype #0000023249

Individual ID 00027178
Associated disease -
Phenotype details see paper; jaundice, hepatosplenomegaly, severe liver disease, striking accumulation of peroxisomal C27-bile acid intermediates in plasma; skin fibroblasts reduced number of enlarged import-competent peroxisomes; died 5 d after liver transplantation
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2014-12-23 22:59:33 +01:00 (CET)
Date last edited 2014-12-23 23:08:06 +01:00 (CET)

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