Phenotype #0000231578

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305731
Associated disease	GSD
Phenotype details	ambulatory; limb-girdle weakness; 41y-non-invasive ventilation; CT brain normal
Diagnosis/Initial	late-onset Pompe disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD2
Age/Examination	53y (53 years)
Age/Diagnosis	42y
Age/Onset	29y
Phenotype/Onset	limb-girdle weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-01 13:40:43 +02:00 (CEST)
Date last edited	N/A

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