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DOID DOID:0050659
Name biotin-responsive basal ganglia disease
Definition A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia.
https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease, https://www.ncbi.nlm.nih.gov/books/NBK169615/
Xrefs

MESH:C537658

OMIM:607483

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is_a basal ganglia disease

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