Phenotype #0000125745

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00153017
Associated disease	NM;IBM2
Phenotype details	see paper; ..., myopathy, thrombocytopenia (during treatment for neonatal jaundice)
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	GNE myopathy
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-02-10 19:06:29 +01:00 (CET)
Date last edited	N/A

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