Phenotype #0000016207

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00017852
Associated disease	PRND
Phenotype details	see paper; rapidly progressive dementia/ataxia over 1y to mute akinetic state with widespread spontaneous myoclonic jerks; initial subtle personality changes, soon followed by progressive memory loss. ...
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	51y (51 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2014-07-04 19:01:22 +02:00 (CEST)
Date last edited	N/A

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