Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Deafness
Frequent (30-79%)HP:0000365
Deglutition disorder
Frequent (30-79%)HP:0002015
Dull intelligence
Frequent (30-79%)HP:0001249
Loss of speech
Frequent (30-79%)HP:0002371
Progressive degeneration of movement
Frequent (30-79%)HP:0002333
Beaking of vertebral bodies
Occasional (5-29%)HP:0004568
Enlarged liver
Occasional (5-29%)HP:0002240
Epilepsy
Occasional (5-29%)HP:0001250
Hirsutism
Occasional (5-29%)HP:0001007
Increased hair growth on body
Occasional (5-29%)HP:0000998
Kyphoscoliosis
Occasional (5-29%)HP:0002751
Large spleen
Occasional (5-29%)HP:0001744
Mental and motor retardation
Occasional (5-29%)HP:0001263
Stiff joint
Occasional (5-29%)HP:0001387
Trouble sleeping
Occasional (5-29%)HP:0002360
Unibrow
Occasional (5-29%)HP:0000664
Asymmetric septal hypertrophy
HP:0001670
Cellular metachromasia
HP:0003653
Coarse hair texture
HP:0002208
Delayed motor milestones
HP:0001270
Dense skull cap
HP:0000250
Diarrhea
HP:0002014
Dysostosis multiplex
HP:0000943
Growth abnormality
HP:0001507
Heparan sulphate excretion in urine
HP:0002159
Hernia
HP:0100790
hyperkinetic disorder
HP:0000752
Narrow head shape
HP:0000268
Ovoid thoracic and lumbar vertebrae
HP:0003309
Related Conditions
Quick Facts
- SNOMED CT
- 75238000
- UMLS CUI
- C0086649
- Fully Specified Name
- Mucopolysaccharidosis III-C (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.