Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased circulating cholesterol level
Always present (100%)HP:0003146
Diarrhea
Always present (100%)HP:0002014
Elevated serum transaminases
Very frequent (80-99%)HP:0002910
Fat in feces
Very frequent (80-99%)HP:0002570
Fat malabsorption
Very frequent (80-99%)HP:0002630
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Abdominal swelling
Frequent (30-79%)HP:0003270
Abnormality of vitamin metabolism
Frequent (30-79%)HP:0100508
Increased hepatocellular lipid droplets
Frequent (30-79%)HP:0006565
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Vomiting
Frequent (30-79%)HP:0002013
EMG: myopathic changes
Occasional (5-29%)HP:0003458
Fatty liver
Occasional (5-29%)HP:0001397
Poor vision
Occasional (5-29%)HP:0000505
Absent deep tendon reflexes
Very rare (1-4%)HP:0001284
Acanthocytosis
Very rare (1-4%)HP:0001927
Impaired proprioception
Very rare (1-4%)HP:0010831
Myopathy
Very rare (1-4%)HP:0003198
Accumulation of lipid droplets in small-bowel enterocytes
HP:0034787
Decreased LDL cholesterol concentration
HP:0003563
Decreased plasma Tg levels
HP:0012153
Diminished deep tendon reflexes
HP:0001315
Growth failure
HP:0001510
Hypoalbuminaemia
HP:0003073
Impaired vibratory sensation
HP:0002495
Malnutrition
HP:0004395
Nonprogressive mental retardation
HP:0001249
Quick Facts
- SNOMED CT
- 702364003
- UMLS CUI
- C0795956
- Fully Specified Name
- Chylomicron retention disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.