Global Variome shared LOVD

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Phenotype #0000171776 Individual ID 00226664 Associated disease THMD Diagnosis/Initial Leigh Syndrome Diagnosis/Definite THMD-5 Phenotype details encephalopathy, encephalopathy, hypotonia, spasticity, hypoaesthesia, dysphagia, respiratory failure, seizures; neuroimaging abnormalities: caudate, putamen, globus pallidus, thalamus, brainstem, periqueductal, spinal cord, cerebellum-dentate; 29m-deceased Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 6m 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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