Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Flat light-brown mark on skin
Always present (100%)HP:0000957
Multiple birthmarks
Very frequent (80-99%)HP:0007565
Axillary freckling
Frequent (30-79%)HP:0000997
Behavioural/Psychiatric abnormality
Frequent (30-79%)HP:0000708
Freckling
Frequent (30-79%)HP:0001480
Inguinal freckling
Frequent (30-79%)HP:0030052
Specific learning disability
Frequent (30-79%)HP:0001328
Decreased body height
Occasional (5-29%)HP:0004322
hyperkinetic disorder
Occasional (5-29%)HP:0000752
Large head
Occasional (5-29%)HP:0000256
Lipomas
Occasional (5-29%)HP:0001012
Pectus excavatum
Occasional (5-29%)HP:0000767
Pectus excavatum or carinatum
Occasional (5-29%)HP:0000766
Poor attention span
Occasional (5-29%)HP:0000736
Acute monocytic leukaemia
Very rare (1-4%)HP:0004845
Arnold Chiari type I malformation
Very rare (1-4%)HP:0007099
Brain imaging abnormality
Very rare (1-4%)HP:0410263
Cataract
Very rare (1-4%)HP:0000518
Childhood attention deficit/hyperactivity disorder
Very rare (1-4%)HP:0007018
Cobb angle greater than ten degrees
Very rare (1-4%)HP:0002650
Delayed language development
Very rare (1-4%)HP:0000750
Delayed motor milestones
Very rare (1-4%)HP:0001270
Dystonic movements
Very rare (1-4%)HP:0001332
Gastrointestinal desmoid tumor
Very rare (1-4%)HP:0100245
Hearing impairment
Very rare (1-4%)HP:0000365
Intellectual impairment
Very rare (1-4%)HP:0100543
Kidney stones
Very rare (1-4%)HP:0000787
Meatus stenosis
Very rare (1-4%)HP:0032077
Mitral valve prolapse
Very rare (1-4%)HP:0001634
Nephroblastoma
Very rare (1-4%)HP:0002667
Quick Facts
- SNOMED CT
- 703541007
- UMLS CUI
- C1969623
- Fully Specified Name
- Neurofibromatosis type 1-like 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.