Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Anterior tongue-like protrusion of lumbar vertebral bodies
Always present (100%)HP:0008430
Bronchospasm
Always present (100%)HP:4000007
Delayed ability to walk
Always present (100%)HP:0031936
Delayed motor milestones
Always present (100%)HP:0001270
Dysostosis multiplex
Always present (100%)HP:0000943
Genu valga
Always present (100%)HP:0002857
Lumbar kyphosis
Always present (100%)HP:0008454
Pectus carinatum
Always present (100%)HP:0000768
Pneumonia, recurrent
Always present (100%)HP:0006532
Scoliosis
Always present (100%)HP:0002650
Short neck
Always present (100%)HP:0000470
Short-trunked dwarfism
Always present (100%)HP:0003521
Waddling gait
Always present (100%)HP:0002515
Cervical myelopathy
HP:0002318
Cervical subluxation
HP:0003308
Chondroitin sulphate excretion in urine
HP:0012070
Constricted iliac wings
HP:0003277
Corneal stromal opacity
HP:0007759
Enlarged liver
HP:0002240
Epiphyseal deformities of tubular bones
HP:0003053
Flaring of rib cage
HP:0000904
Flattened vertebral bodies
HP:0000926
Greyish enamel
HP:0000683
Hearing impairment
HP:0000365
Hunched back
HP:0002808
Inguinal hernia
HP:0000023
Keratan sulphate excretion in urine
HP:0012069
Large elbow
HP:0030865
Large mouth
HP:0000154
Ligamentous laxity
HP:0001382
Related Conditions
Quick Facts
- SNOMED CT
- 7259005
- UMLS CUI
- C0086651
- Fully Specified Name
- Mucopolysaccharidosis IV-A (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.