GenTIGSA Gene Database on Rare Genetic Disorders
Biotin-responsive Basal Ganglia Disease  
Disease Aliases (8)

Bbgd

Biotin-thiamine-responsive basal ganglia disease

Btbgd

Thiamine metabolism dysfunction syndrome 2

Thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)

Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)

Thiamine metabolism dysfunction syndrome type 2

Thiamine transporter-2 deficiency

Associated Genes (0)
 

Cross-references of Biotin-responsive basal ganglia disease OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations