Global Variome shared LOVD

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Phenotype #0000016198 Individual ID 00017845 Associated disease CJD Phenotype details see paper; 75y-excessive fatigue, perceived left sided weakness/sensory disturbances feet; in 6m rapid deterioration, recurrent falls, asymmetrical akinetic rigid syndrome, broken pursuit eye movements, myoclonic jerks, mild apraxia with well preserved cognition; MRI high signal change putamen/caudate nuclei bilaterally (particularly right); CSF unremarkable (14-3-3 absent); EEG left hemisphere slow wave activity; declined rapidly, died without post-mortem examination Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 75y (75 years) Age/Diagnosis - Age/Onset - 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 2014-07-04 16:47:22 +02:00 (CEST) Date last edited 2014-07-04 16:50:30 +02:00 (CEST)

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