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biotin-responsive basal ganglia disease | RareConnect | RareConnect.io

/thiamine-responsive dysfunction syndrome

/basal ganglia disorder

/hereditary neurological disease

/biotin-responsive basal ganglia disease

biotin-responsive basal ganglia disease

Rare Disease

MONDO:0011841

Also Known As

BBGDBTBGDbiotin-thiamine-responsive basal ganglia diseasethiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)thiamine-responsive encephalopathyTHMD2basal ganglia disease, biotin-responsiveencephalopathy, thiamine-responsivethiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:607483 ↗

Orphanet

Orphanet:199348 ↗Orphanet:65284 ↗

GARD

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