Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Diarrhea
Very frequent (80-99%)HP:0002014
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Recurrent URI
Very frequent (80-99%)HP:0002788
Trouble sleeping
Very frequent (80-99%)HP:0002360
Hearing impairment
Frequent (30-79%)HP:0000365
Inguinal hernia
Frequent (30-79%)HP:0000023
Seizures
Frequent (30-79%)HP:0001250
Umbilical hernia
Frequent (30-79%)HP:0001537
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Enlarged liver
Occasional (5-29%)HP:0002240
Large spleen
Very rare (1-4%)HP:0001744
Asymmetric septal hypertrophy
HP:0001670
Coarse face
HP:0000280
Coarse hair texture
HP:0002208
Dense skull cap
HP:0000250
Dysostosis multiplex
HP:0000943
Growth abnormality
HP:0001507
Heparan sulphate excretion in urine
HP:0002159
Hirsutism
HP:0001007
Hyperactive behaviour
HP:0000752
Mental deficiency
HP:0001249
Ovoid thoracic and lumbar vertebrae
HP:0003309
Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity
HP:4000193
Stiff joint
HP:0001387
Thickened ribs
HP:0000900
Unibrow
HP:0000664
Related Conditions
Quick Facts
- SNOMED CT
- 41572006
- UMLS CUI
- C0086647
- Fully Specified Name
- Mucopolysaccharidosis III-A (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.