Global Variome shared LOVD

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Phenotype #0000016196 Individual ID 00017844 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; 33y-forgetfulness, emotional lability, aggressive outbursts34y-unable to recognise family members, incontinence, severe non-fluent expressive dysphasia, rigidity, hyperreflexia, extensor plantars, palmomental/grasp reflexes; EEG generalised slow activity; MRI moderate frontotemporal cortical atrophy In the following months his walking deteriorated to a slow and stiff gait, he exhibited an exaggerated startle and he died 2 years after disease onset Inheritance Isolated (sporadic) Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2014-07-04 16:39:29 +02:00 (CEST) Date last edited N/A

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