Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Ataxia
Always present (100%)HP:0001251
Optic atrophy
Always present (100%)HP:0000648
Peripheral neuropathy
Always present (100%)HP:0009830
Abnormal finger-nose-finger test
Frequent (30-79%)HP:0001310
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Chronic constipation
Frequent (30-79%)HP:0012450
Deglutition disorder
Frequent (30-79%)HP:0002015
Impaired vision
Frequent (30-79%)HP:0000505
Sensory axonal neuropathy
Frequent (30-79%)HP:0003390
Vermian atrophy
Frequent (30-79%)HP:0006855
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Frequent falls
Occasional (5-29%)HP:0002359
Instability or lack of coordination of central trunk muscles
Occasional (5-29%)HP:0002078
Legal blindness
Occasional (5-29%)HP:0000618
Nerve damage causing decreased feeling and movement
Occasional (5-29%)HP:0007141
Optic chiasm hypoplasia
Occasional (5-29%)HP:0034311
Periventricular leukomalacia
Occasional (5-29%)HP:0006970
Tremor
Occasional (5-29%)HP:0001337
Unsteady walk
Occasional (5-29%)HP:0002317
Achilles tendon contracture
HP:0001771
Adductor longus contractures
HP:0006366
Extensor plantar responses
HP:0003487
Gait disturbance
HP:0001288
Hamstring contractures
HP:0003089
Increased reflexes
HP:0001347
Involuntary, rapid, rhythmic eye movements
HP:0000639
Low intelligence
HP:0001249
No development of motor milestones
HP:0001270
Progressive visual loss
HP:0000529
Spasticity, progressive
HP:0002191
Related Conditions
Quick Facts
- SNOMED CT
- 718221007
- UMLS CUI
- C0221061
- Fully Specified Name
- Behr syndrome (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.