Phenotype #0000231567

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00305720
Associated disease	GSD
Phenotype details	ambulatory; limb-girdle weakness; no ventilation; MRI brain multiple small aneurysms (right internal carotid artery, left anterior cerebral artery)
Diagnosis/Initial	late-onset Pompe disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GSD2
Age/Examination	47y (47 years)
Age/Diagnosis	36y
Age/Onset	25y
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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