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Biotin-responsive basal ganglia disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
1 associated gene
No signs/symptoms info
Biotin-responsive basal ganglia disease
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease

SLC19A3
(UniProt - OMIM)
 SLC19A3
(UniProt - OMIM)

COMMON
GENES 		SLC19A3


Citations in the biomedical literature:


Biotin-responsive basal ganglia disease
SLC19A3
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease



Biotin-responsive basal ganglia disease
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease

Synonym(s):
- BBGD
- BTBGD
- Biotin-thiamine-responsive basal ganglia disease
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537658
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.