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Biotin-responsive basal ganglia disease
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Leigh syndrome with leukodystrophy
Thiamine-responsive encephalopathy
Synonym(s):
- BBGD
- BTBGD
- Biotin-thiamine-responsive basal ganglia disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C537658
Gene symbol UniProt reference OMIM reference
SLC19A3 Q9BZV2606152
No signs/symptoms info available.