Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Dull intelligence
Always present (100%)HP:0001249
Dysostosis multiplex
Always present (100%)HP:0000943
Reduced tissue alpha-N-acetylglucosaminidase activity
Always present (100%)HP:6000360
Aggression
HP:0000718
Asymmetric septal hypertrophy
HP:0001670
Dense skull cap
HP:0000250
Diarrhea
HP:0002014
Enlarged liver
HP:0002240
Epilepsy
HP:0001250
Heparan sulphate excretion in urine
HP:0002159
Hirsutism
HP:0001007
hyperkinetic disorder
HP:0000752
Hypoacusis
HP:0000365
Increased heart size
HP:0001640
Large spleen
HP:0001744
Ovoid thoracic and lumbar vertebrae
HP:0003309
Recurrent URI
HP:0002788
Rough hair texture
HP:0002208
Stiff joint
HP:0001387
Thickened facial skin with coarse facial features
HP:0000280
Thickened ribs
HP:0000900
Trouble sleeping
HP:0002360
Unibrow
HP:0000664
Worsening neurological symptoms
HP:0002344
Related Conditions
Quick Facts
- SNOMED CT
- 59990008
- UMLS CUI
- C0086648
- Fully Specified Name
- Mucopolysaccharidosis III-B (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.