DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for biotin-responsive basal ganglia disease

Biotin-responsive basal ganglia disease [DOID:0050659]

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.

Synonyms:  biotin-responsive basal ganglia disease,  DOID:0050659,  biotinresponsive basal ganglia disease,  biotin-responsive basal ganglia disorder,  biotin-responsive basal ganglia syndrome ...

Linkouts:  OMIM