Phenotype #0000023249

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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