Phenotype #0000175212

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00234948
Associated disease	GSD2
Phenotype details	no cardiomyopathy (-HP:0001638); no liver/spleen involvement; respiratory problems (HP:0002795); not wheelchair bound (-HP:0002540); mobility problem (HP:0100022)
Diagnosis/Initial	glycogen storage disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD-2: adult onset
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	27y
Phenotype/Onset	-
Protein	-
Owner name	Pim Pijnappel
Database submission license
Created by	Johan den Dunnen
Date created	2019-05-10 13:10:57 +02:00 (CEST)
Date last edited	N/A

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