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Sialic acid storage disease, severe infantile type
disorderSNOMED 34566007CUI C1096902
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Enlarged liver
Always present (100%)HP:0002240
Increased level of NANA in urine
Always present (100%)HP:0410156
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Hirsutism
Frequent (30-79%)HP:0001007
Large head
Frequent (30-79%)HP:0000256
Large spleen
Frequent (30-79%)HP:0001744
Lingual hyperplasia
Frequent (30-79%)HP:0000158
Mental and motor retardation
Frequent (30-79%)HP:0001263
Mental retardation, mild
Frequent (30-79%)HP:0001256
Thickened facial skin with coarse facial features
Frequent (30-79%)HP:0000280
Abdominal protuberance
HP:0001538
Abnormality of the chest
HP:0000765
Broad flat nasal bridge
HP:0000431
Cardiac insufficiency
HP:0001635
Childhood attention deficit/hyperactivity disorder
HP:0007018
Conjugated hyperbilirubinemia
HP:0002908
Decreased volume of upper lip
HP:0000219
Enlarged lysosomal vacuoles in lymphocytes
HP:0001922
Eye drop
HP:0000508
Flat philtrum
HP:0000319
Foot deformity
HP:0001760
Frontal protuberance
HP:0002007
Fullness around the eyes
HP:0000629
Generalised decreased muscle tone
HP:0001290
Generalized hirsutism
HP:0002230
Growth abnormality
Excluded (<1%)HP:0001507
High arched palate
HP:0000218
Hydrops fetalis
HP:0001789
Hypopigmentation of the skin
HP:0001010
Hypoplastic nipples
HP:0002557
Related Conditions
Quick Facts
- SNOMED CT
- 34566007
- UMLS CUI
- C1096902
- Fully Specified Name
- Sialic acid storage disease, severe infantile type (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.