Phenotype #0000357584

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472789
Associated disease	GSD
Phenotype details	see paper; ..., hepatomegaly; ultrsound increased echogenicity, no focal lesions
Diagnosis/Initial	glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD9C
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-28 11:17:45 +01:00 (CET)
Date last edited	N/A

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