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HBSL - hypomyelination, brain stem, spinal cord, leg spasticity
disorderSNOMED 777999008CUI C4755254
Overview
HBSL - hypomyelination, brain stem, spinal cord, leg spasticity is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brisk deep tendon reflexes
Always present (100%)HP:0001348
Extensor plantar responses
Always present (100%)HP:0003487
Spasticity of lower limb
Always present (100%)HP:0002061
Hypoplasia of corpus callosum
Very frequent (80-99%)HP:0002079
Truncal hypotonia
Very frequent (80-99%)HP:0008936
Ataxia
Frequent (30-79%)HP:0001251
CNS hypomyelination
Frequent (30-79%)HP:0003429
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Mental retardation, mild
Frequent (30-79%)HP:0001256
No development of motor milestones
Frequent (30-79%)HP:0001270
Optic disc pallor
Frequent (30-79%)HP:0000543
Spastic diparesis
Frequent (30-79%)HP:0001264
Irritability
Occasional (5-29%)HP:0000737
Macular cherry red spot
Occasional (5-29%)HP:0010729
Occult spinal dysraphism
Occasional (5-29%)HP:0002144
Seizures
Occasional (5-29%)HP:0001250
Spina bifida occulta
Occasional (5-29%)HP:0003298
Leukoencephalopathy
HP:0002352
Quick Facts
- SNOMED CT
- 777999008
- UMLS CUI
- C4755254
- Fully Specified Name
- Hypomyelination with brain stem and spinal cord involvement and leg spasticity (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.