Overview
Dysmorphic sialidosis 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
Abnormality of movement
Very frequent (80-99%)HP:0100022
Abnormality of the macula
Very frequent (80-99%)HP:0001103
Cognitive delay
Very frequent (80-99%)HP:0001263
Decreased body height
Very frequent (80-99%)HP:0004322
Dependant oedema
Very frequent (80-99%)HP:0010741
Dysostosis multiplex
Very frequent (80-99%)HP:0000943
Enlarged liver
Very frequent (80-99%)HP:0002240
Hearing impairment
Very frequent (80-99%)HP:0000365
Hunched back
Very frequent (80-99%)HP:0002808
Hydrops fetalis
Very frequent (80-99%)HP:0001789
Inguinal hernia
Very frequent (80-99%)HP:0000023
Kidney damage
Very frequent (80-99%)HP:0000112
Large spleen
Very frequent (80-99%)HP:0001744
Peritoneal effusion
Very frequent (80-99%)HP:0001541
Scarring or clouding of the cornea of the eye
Very frequent (80-99%)HP:0007957
Shorter than typical length between neck and abdomen
Very frequent (80-99%)HP:0010306
Speech difficulties
Very frequent (80-99%)HP:0000750
Thickened facial skin with coarse facial features
Very frequent (80-99%)HP:0000280
Umbilical hernia
Very frequent (80-99%)HP:0001537
Ataxia
Frequent (30-79%)HP:0001251
Epilepsy
Frequent (30-79%)HP:0001250
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Neurogenic muscle atrophy, especially in the lower limbs
Frequent (30-79%)HP:0003202
Osteoporosis
Frequent (30-79%)HP:0000939
Pectus carinatum
Frequent (30-79%)HP:0000768
Tremor
Frequent (30-79%)HP:0001337
Anomaly of the bone marrow cells
Occasional (5-29%)HP:0005561
Dysphonia
Occasional (5-29%)HP:0001618
Flexion contractures
Occasional (5-29%)HP:0001371
Quick Facts
- SNOMED CT
- 52186006
- UMLS CUI
- C3888317
- Fully Specified Name
- Dysmorphic sialidosis (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.