Phenotype #0000247230

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00329026
Associated disease	GSD
Phenotype details	see paper; ..., hepatomegaly; growth failure, hypotonia, retarded bone age; no hypoglycaemia, no lactataemia; glycogen storage in liver
Diagnosis/Initial	glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	35d
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Johan den Dunnen
Date created	2021-02-03 15:44:42 +01:00 (CET)
Date last edited	N/A

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