biotin-responsive basal ganglia disease
Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness.
MONDO:0005527
toxic encephalopathy
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
excluded_subClassOf
MONDO:0000152
thiamine-responsive dysfunction syndrome
is_a
MONDO:0003996
basal ganglia disorder
is_a
MONDO:0100545
hereditary neurological disease
is_a
BBGD
exact
BTBGD
exact
THMD2
exact
biotin-responsive basal ganglia disease
exact
biotin-thiamine-responsive basal ganglia disease
exact
encephalopathy, thiamine-responsive
exact
thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)
exact
thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)
related
thiamine-responsive encephalopathy
exact