Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Chondroitin sulphate excretion in urine
Frequent (30-79%)HP:0012070
Corneal opacity
Frequent (30-79%)HP:0007957
Dysostosis multiplex
Frequent (30-79%)HP:0000943
Genu valga
Frequent (30-79%)HP:0002857
Hunched back
Frequent (30-79%)HP:0002808
Mitral regurgitation, mild
Frequent (30-79%)HP:0001653
Small capital femoral epiphyses
Frequent (30-79%)HP:0003090
Small odontoid peg
Frequent (30-79%)HP:0003311
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Ataxia
Occasional (5-29%)HP:0001251
Bilateral clubfeet
Occasional (5-29%)HP:0001776
Developmental dysplasia of the hip
Occasional (5-29%)HP:0001385
Enlarged liver
Occasional (5-29%)HP:0002240
Flattened vertebral bodies
Occasional (5-29%)HP:0000926
Scoliosis
Occasional (5-29%)HP:0002650
Stiff joint
Occasional (5-29%)HP:0001387
Thinning of the corpus callosum
Occasional (5-29%)HP:0033725
Aortic stenosis
HP:0001650
Beta-galactosidase deficiency in fibroblasts and white blood cells
HP:0008166
Cervical myelopathy
HP:0002318
Cervical subluxation
HP:0003308
Constricted iliac wings
HP:0003277
Corneal stromal opacity
HP:0007759
Coxa valga deformity
HP:0002673
Deafness
HP:0000365
Dental cavities
HP:0000670
Epiphyseal deformities of tubular bones
HP:0003053
Flaring of rib cage
HP:0000904
Greyish enamel
HP:0000683
Hypertrophy of mandible
HP:0000303
Related Conditions
Quick Facts
- SNOMED CT
- 238044004
- UMLS CUI
- C0086652
- Fully Specified Name
- Mucopolysaccharidosis type IVB (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.