Phenotype #0000001946

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00003128
Associated disease	HDL2
Phenotype details	weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, action tremor, hyperreflexia, (extensor plantars), reduced movement, not ambulatory, no saccadic pursuit
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	47y (47 years)
Age/Diagnosis	-
Age/Onset	35y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2013-10-29 21:54:31 +01:00 (CET)
Date last edited	2013-10-29 22:02:17 +01:00 (CET)

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