Phenotype #0000105529

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00132759
Associated disease	NICCD
Phenotype details	see paper; ..., prolonged icterus, hepatocellular dysfunction, increased citrulline and dibasic amino acids in plasma and urine
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y00m70d
Phenotype/Onset	persistent jaundice
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-11-04 14:30:02 +01:00 (CET)
Date last edited	N/A

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