Global Variome shared LOVD

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Phenotype #0000171741 Individual ID 00226629 Associated disease THMD Diagnosis/Initial Leigh Syndrome Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, tremor, dystonia, opistothonus, akinetic-rigid syndrome, spasticity, nystagmus; 42d-deceased Inheritance Familial, autosomal recessive Age/Examination 1m15d Age/Diagnosis - Age/Onset 1m Phenotype/Onset - 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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