Global Variome shared LOVD

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Phenotype #0000171774 Individual ID 00226662 Associated disease THMD Diagnosis/Initial bilateral striatal necrosis and neuropathy Diagnosis/Definite THMD-4 Phenotype details encephalopathy, hypotonia, status dystonicus, dysphagia, dysarthria; neuroimaging abnormalities: caudate, putamen, thalamus; outcome: peripheral neuropathy, movement disorder Inheritance Familial, autosomal recessive Age/Examination 24y (24 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset febrile illness Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-03-09 21:20:59 +01:00 (CET) Date last edited N/A

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