Phenotype #0000345768

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00457275
Associated disease	?
Diagnosis/Initial	intractable itching, normal GGT cholestasis
Diagnosis/Definite	-
Phenotype details	intractable itching, normal GGT cholestasis; growth failure/speech delay and short stature; 9y-alive with native liver
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	4m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-11-04 10:36:41 +01:00 (CET)
Date last edited	N/A

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