Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Naevi
Very frequent (80-99%)HP:0003764
Degeneration of the spinal cord
Frequent (30-79%)HP:0006827
Hypopigmentation of the skin
Frequent (30-79%)HP:0001010
Pain
Frequent (30-79%)HP:0012531
Patchy darkened skin
Frequent (30-79%)HP:0000953
Progressive spastic paraparesis
Frequent (30-79%)HP:0007199
Spinal cord compression
Frequent (30-79%)HP:0002176
Spinal stenosis
Frequent (30-79%)HP:0003416
Abnormal brain morphology
Occasional (5-29%)HP:0012443
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Absent deep tendon reflexes
Occasional (5-29%)HP:0001284
Delayed language development
Occasional (5-29%)HP:0000750
Extensor plantar responses
Occasional (5-29%)HP:0003487
Fatty lump
Occasional (5-29%)HP:0012032
Poor vision
Occasional (5-29%)HP:0000505
Psychomotor development deficiency
Occasional (5-29%)HP:0001263
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Spinal tumor
Occasional (5-29%)HP:0010302
Thoracolumbar scoliosis
Occasional (5-29%)HP:0002944
Weakness of long finger extensor muscles
Occasional (5-29%)HP:0009077
Bulge in wall of large artery that carries blood away from heart
Very rare (1-4%)HP:0004942
Deficient in vitamin D
Very rare (1-4%)HP:0100512
Funny looking face
Very rare (1-4%)HP:0001999
Osteopenia
Very rare (1-4%)HP:0000938
Polycystic kidneys
Very rare (1-4%)HP:0000113
Rhabdomyosarcoma
Very rare (1-4%)HP:0002859
Related Conditions
Quick Facts
- SNOMED CT
- 239112008
- UMLS CUI
- C5848385
- Fully Specified Name
- Epidermal nevus syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.