Global Variome shared LOVD

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Phenotype #0000001947 Individual ID 00003129 Associated disease HDL2 Phenotype details weight loss, dementia, psychiatric symptoms, dysarthria, no chorea, rigidity, dystonia, no action tremor, hyperreflexia, extensor plantars, primitive reflexes, bradykinesia, reduced movement, not ambulatory, no saccadic pursuit Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 52y (52 years) Age/Diagnosis - Age/Onset 35y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2013-10-29 22:01:29 +01:00 (CET) Date last edited N/A

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