Global Variome shared LOVD

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Phenotype #0000171703 Individual ID 00226591 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, tremor, dystonia, status dystonicus, akinetic-rigid syndrome, spasticity, nystagmus, rhabdomyolisis, dysautonomia, dysarthria, hypoaesthesia, vertigo, dystonia, ptosis; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical; outcome: dystonia Inheritance Familial, autosomal recessive Age/Examination 25y (25 years) Age/Diagnosis - Age/Onset 17y Phenotype/Onset profuse exercise 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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