Overview
By MedlinePlus, National Library of Medicine
Centers for Disease Control and Prevention Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal spinal segmentation
Very frequent (80-99%)HP:0003422
Back knee
Very frequent (80-99%)HP:0002816
Cavernous haemangioma
Very frequent (80-99%)HP:0001048
Central hypotonia
Very frequent (80-99%)HP:0001252
Cerebellar hypoplasia/atrophy
Very frequent (80-99%)HP:0007360
Decreased size of eyeball
Very frequent (80-99%)HP:0000568
Decreased width of the skull
Very frequent (80-99%)HP:0004422
Dilated cerebral ventricle
Very frequent (80-99%)HP:0002119
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Facial angiofibromas
Very frequent (80-99%)HP:0009720
Frontal protuberance
Very frequent (80-99%)HP:0002007
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Increased reflexes
Very frequent (80-99%)HP:0001347
Iris coloboma
Very frequent (80-99%)HP:0000612
Noncancerous mole
Very frequent (80-99%)HP:0000995
Poor school performance
Very frequent (80-99%)HP:0001249
Prominent posterior skull
Very frequent (80-99%)HP:0000269
Reduced tendon reflexes
Very frequent (80-99%)HP:0001315
Seizures
Very frequent (80-99%)HP:0001250
Uneven or disproportionate growth of one body part compared to another
Very frequent (80-99%)HP:0100555
Abnormal eye
Frequent (30-79%)HP:0000478
Abnormality of vision
Frequent (30-79%)HP:0000504
Cavity within brain
Frequent (30-79%)HP:0002132
Flat head
Frequent (30-79%)HP:0001357
Irregular hyperpigmentation
Frequent (30-79%)HP:0007400
Unbalanced face
Frequent (30-79%)HP:0000324
Abnormal deposits of calcium in the brain
Occasional (5-29%)HP:0002514
Dandy-Walker cyst
Occasional (5-29%)HP:0001305
Eye muscle paralysis
Occasional (5-29%)HP:0000602
Growth deficiency
Occasional (5-29%)HP:0001510
Related Conditions
Quick Facts
- SNOMED CT
- 52298009
- UMLS CUI
- C4552097
- Fully Specified Name
- Linear sebaceous nevus sequence (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.