Global Variome shared LOVD

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Phenotype #0000171707 Individual ID 00226595 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details encephalopathy, hypotonia, tremor, dystonia, spasticity, ophtalmoplegia, dysarthria, dysphagia, respiratory failure, rhabdomyolisis, seizures; neuroimaging abnormalities: caudate, putamen, thalamus, corticosubcortical, cerebellum, brainstem, periqueductal, spinal cord, lactate on MRS; 13y-deceased Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 13y 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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