Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Increased level of NANA in urine
Always present (100%)HP:0410156
Abnormal liver function
Very frequent (80-99%)HP:0002910
Abnormality of the mitochondrion
Very frequent (80-99%)HP:0012103
Broad flat nasal bridge
Very frequent (80-99%)HP:0000431
Childhood attention deficit/hyperactivity disorder
Very frequent (80-99%)HP:0007018
Coarse face
Very frequent (80-99%)HP:0000280
Communication delay
Very frequent (80-99%)HP:0002474
Decreased volume of upper lip
Very frequent (80-99%)HP:0000219
Dysostosis multiplex
Very frequent (80-99%)HP:0000943
Enlarged liver
Very frequent (80-99%)HP:0002240
Episodic abdominal pain
Very frequent (80-99%)HP:0002574
Fullness around the eyes
Very frequent (80-99%)HP:0000629
Gallstones
Very frequent (80-99%)HP:0001081
Generalised decreased muscle tone
Very frequent (80-99%)HP:0001290
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Husky voice
Very frequent (80-99%)HP:0001609
Hyperkinetic movements
Very frequent (80-99%)HP:0002487
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Large halluces
Very frequent (80-99%)HP:0001847
Loose-jointedness
Very frequent (80-99%)HP:0001382
Low factor II activity
Very frequent (80-99%)HP:0008151
Low-set ears
Very frequent (80-99%)HP:0000369
Malformation of face
Very frequent (80-99%)HP:0001999
Memory impairment
Very frequent (80-99%)HP:0002354
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Narrow, high-arched roof of mouth
Very frequent (80-99%)HP:0002705
Palpebronasal fold
Very frequent (80-99%)HP:0000286
partial or complete syndactyly 2nd-3rd toes
Very frequent (80-99%)HP:0004691
Prolonged activated partial thromboplastin time
Very frequent (80-99%)HP:0003645
Related Conditions
Quick Facts
- SNOMED CT
- 238051008
- UMLS CUI
- C0342853
- Fully Specified Name
- Sialuria (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.