Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Central nervous system degeneration
Very frequent (80-99%)HP:0007009
Chronic ear infection
Very frequent (80-99%)HP:0000389
Coarse hair texture
Very frequent (80-99%)HP:0002208
Generalized hirsutism
Very frequent (80-99%)HP:0002230
Intestinal malabsorption
Very frequent (80-99%)HP:0002024
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Mucopolysacchariduria
Very frequent (80-99%)HP:0008155
Speech delay
Very frequent (80-99%)HP:0000750
Trouble sleeping
Very frequent (80-99%)HP:0002360
Urinary glycosaminoglycan excretion
Very frequent (80-99%)HP:0003541
Worsening neurological symptoms
Very frequent (80-99%)HP:0002344
Abnormal clavicles
Frequent (30-79%)HP:0000889
Abnormal skeletal morphology
Frequent (30-79%)HP:0011842
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Adenoiditis
Frequent (30-79%)HP:0031458
Ataxia
Frequent (30-79%)HP:0001251
Behavioral changes
Frequent (30-79%)HP:0000708
Brain imaging abnormality
Frequent (30-79%)HP:0410263
Cataract
Frequent (30-79%)HP:0000518
Deafness
Frequent (30-79%)HP:0000365
Distortion of face
Frequent (30-79%)HP:0001999
Enlarged liver
Frequent (30-79%)HP:0002240
Excessive bone growth of the skull and face
Frequent (30-79%)HP:0004493
Gait disturbance
Frequent (30-79%)HP:0001288
Genu valga
Frequent (30-79%)HP:0002857
Heparan sulphate excretion in urine
Frequent (30-79%)HP:0002159
Hirsutism
Frequent (30-79%)HP:0001007
hyperkinetic disorder
Frequent (30-79%)HP:0000752
Hypertonia
Frequent (30-79%)HP:0001276
Intermittent diarrhea
Frequent (30-79%)HP:0002254
Quick Facts
- SNOMED CT
- 88393000
- UMLS CUI
- C0026706
- Fully Specified Name
- Sanfilippo syndrome (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.