Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced muscle glycogen debrancher enzyme activity
Always present (100%)HP:6000616
Chubby cheeks
Very frequent (80-99%)HP:0000293
Decreased body height
Very frequent (80-99%)HP:0004322
Immune deficiency
Very frequent (80-99%)HP:0002721
Increased triglycerides
Very frequent (80-99%)HP:0002155
Low blood sugar
Very frequent (80-99%)HP:0001943
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Myopathy
Frequent (30-79%)HP:0003198
Broad, upturned nose
HP:0000455
Concave bridge of nose
HP:0005280
Decreased volume of lip vermillion
HP:0000233
Decreased volume of upper lip
HP:0000219
Disease of the heart muscle
HP:0001638
Distal muscle atrophy, upper and lower limbs
HP:0003693
Elevated serum creatine phosphokinase
HP:0003236
Enlarged liver
HP:0002240
Enophthalmos
HP:0000490
Hyperlipidemia
HP:0003077
Hypotrophic midface
HP:0011800
Liver fibrosis
HP:0001395
Muscle weakness
HP:0001324
Subclinical abnormal liver function tests
HP:0002910
Ventricular hypertrophy
HP:0001714
Zygomatic flattening
HP:0000272
Quick Facts
- SNOMED CT
- 66937008
- UMLS CUI
- C0017922
- Fully Specified Name
- Glycogen storage disease, type III (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 24
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.