Global Variome shared LOVD

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Phenotype #0000171748 Individual ID 00226636 Associated disease THMD Diagnosis/Initial Leigh Syndrome Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, tremor, dystonia, status dystonicus, chorea, opistothonus, spasticity; neuroimaging abnormalities: putamen, thalamus, corticosubcortical, corticosubcortical, lactate on MRS; outcome: hypotonia, microcephaly, intellectual disability, dystonia Inheritance Familial, autosomal recessive Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 1m Phenotype/Onset viral infection 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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