Global Variome shared LOVD

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Phenotype #0000171764 Individual ID 00226652 Associated disease THMD Diagnosis/Initial biotin responsive basal ganglia disease Diagnosis/Definite THMD-2 Phenotype details encephalopathy, spasticity, dysphagia, liver disease, seizures; neuroimaging abnormalities: caudate, putamen, corticosubcortical, cerebellum; outcome: seizures, intellectual disability, dystonia Inheritance Familial, autosomal recessive Age/Examination 18m Age/Diagnosis - Age/Onset 4m Phenotype/Onset meningitis 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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