Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abdominal protuberance
Always present (100%)HP:0001538
Beta-glucuronidase low in leukocytes
Always present (100%)HP:0034859
Early bone maturation
Always present (100%)HP:0005616
Gap between large left and right abdominal muscles
Always present (100%)HP:0001540
Growth delay as children
Always present (100%)HP:0008897
Large iliac wings
Always present (100%)HP:0008818
No development of motor milestones
Always present (100%)HP:0001270
Palpebronasal fold
Always present (100%)HP:0000286
Pectus excavatum
Always present (100%)HP:0000767
Short stature, severe
Always present (100%)HP:0003510
Spatulate ribs
Always present (100%)HP:0012307
Unbalanced face
Always present (100%)HP:0000324
Urinary glycosaminoglycan excretion
Always present (100%)HP:0003541
Abnormal pleura morphology
Very frequent (80-99%)HP:0002103
Anterior beaking of lower thoracic vertebrae
Very frequent (80-99%)HP:0004607
Coarse face
Very frequent (80-99%)HP:0000280
Corneal opacity
Very frequent (80-99%)HP:0007957
Decreased body height
Very frequent (80-99%)HP:0004322
Dysostosis multiplex
Very frequent (80-99%)HP:0000943
Flat facial shape
Very frequent (80-99%)HP:0012368
Flexion contractures
Very frequent (80-99%)HP:0001371
Increased size of skull
Very frequent (80-99%)HP:0000256
Inguinal hernia
Very frequent (80-99%)HP:0000023
Limitation of joint mobility
Very frequent (80-99%)HP:0001376
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Onset of lymphedema around puberty
Very frequent (80-99%)HP:0001004
Peritoneal effusion
Very frequent (80-99%)HP:0001541
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Scoliosis
Very frequent (80-99%)HP:0002650
Thickening of shaft or central part of long bones
Very frequent (80-99%)HP:0005019
Related Conditions
Quick Facts
- SNOMED CT
- 124470009
- UMLS CUI
- C0085132
- Fully Specified Name
- Deficiency of beta-glucuronidase (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.