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biotin-responsive basal ganglia disease

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Uniprot Description An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011841:  biotin-responsive basal ganglia disease
GARD:0010237: 
MESH:C537658: 
Orphanet:65284: 
SCTID:703522009: 
UMLS:C1843807: