Overview
Sialidosis type 1 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced tissue neuraminidase activity
Always present (100%)HP:6000911
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Abnormality of movement
Very frequent (80-99%)HP:0100022
Aminoaciduria
Very frequent (80-99%)HP:0003355
Ataxia
Very frequent (80-99%)HP:0001251
Coarse face
Very frequent (80-99%)HP:0000280
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased visual acuity, progressive
Very frequent (80-99%)HP:0000529
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Dysostosis multiplex
Very frequent (80-99%)HP:0000943
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Epilepsy
Very frequent (80-99%)HP:0001250
Gait disturbance
Very frequent (80-99%)HP:0001288
Increased height of lower lip vermilion
Very frequent (80-99%)HP:0000179
Increased urinary O-linked sialopeptides
Very frequent (80-99%)HP:0003461
Increased urinary sialyloligosaccharides
Very frequent (80-99%)HP:0012061
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Jerking
Very frequent (80-99%)HP:0001336
Large spleen
Very frequent (80-99%)HP:0001744
Macular cherry red spot
Very frequent (80-99%)HP:0010729
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Pectus carinatum
Very frequent (80-99%)HP:0000768
Poor vision
Very frequent (80-99%)HP:0000505
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Scoliosis
Very frequent (80-99%)HP:0002650
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Slurred speech
Very frequent (80-99%)HP:0001350
Related Conditions
Quick Facts
- SNOMED CT
- 723675006
- UMLS CUI
- C0023806
- Fully Specified Name
- Sialidosis type 1 (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.