Global Variome shared LOVD

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Phenotype #0000171777 Individual ID 00226665 Associated disease THMD Diagnosis/Initial Leigh Syndrome Diagnosis/Definite THMD-5 Phenotype details encephalopathy, hypotonia, dystonia, spasticity, strabismus, hypoaesthesia, dysphagia; neuroimaging abnormalities: putamen, thalamus, cerebellum-dentate; outcome: spasticity, hypotonia, intellectual disability Inheritance Familial, autosomal recessive Age/Examination 4y5m (4 years, 5 months) Age/Diagnosis - Age/Onset 4m 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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