Phenotype #0000297545

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00404987
Associated disease	GSD2
Phenotype details	see paper; ...
Diagnosis/Initial	large fibre symmetrical peripheral neuropathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD2
Age/Examination	25y (25 years)
Age/Diagnosis	-
Age/Onset	8y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-03-11 16:44:58 +01:00 (CET)
Date last edited	N/A

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