Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Corticospinal signs
Always present (100%)HP:0007256
Deglutition disorder
Always present (100%)HP:0002015
Dystonic disease
Always present (100%)HP:0001332
Inability to walk
Always present (100%)HP:0002540
Loss of speech
Always present (100%)HP:0002371
Neurodevelopmental regression
Always present (100%)HP:0002376
Unconsciousness
Always present (100%)HP:0001259
Cogwheel rigidity
Very frequent (80-99%)HP:0002396
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Action tremor
Frequent (30-79%)HP:0002345
Arc de cercle
Frequent (30-79%)HP:0002179
Confusion
Frequent (30-79%)HP:0001289
Extensor plantar responses
Frequent (30-79%)HP:0003487
Eye drop
Frequent (30-79%)HP:0000508
Facial muscle weakness of muscles innervated by CN VII
Frequent (30-79%)HP:0010628
Frequent falls
Frequent (30-79%)HP:0002359
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Mutism
Frequent (30-79%)HP:0002300
Quadriparesis
Frequent (30-79%)HP:0002273
Seizures
Frequent (30-79%)HP:0001250
Torpor
Frequent (30-79%)HP:0001254
Vomiting
Frequent (30-79%)HP:0002013
Choreatic disease
Occasional (5-29%)HP:0002072
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Truncal titubation
Occasional (5-29%)HP:0030147
Abnormality of the basal ganglia
HP:0002134
Encephalopathy
HP:0001298
External ophthalmoplegia
HP:0000544
Facial Dystonia
HP:0012179
Hypertonia
HP:0001276
Quick Facts
- SNOMED CT
- 703522009
- UMLS CUI
- C1843807
- Fully Specified Name
- Biotin-thiamine-responsive basal ganglia disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.