Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cardiac insufficiency
Always present (100%)HP:0001635
Elevated serum creatine phosphokinase
Always present (100%)HP:0003236
Muscle weakness
Always present (100%)HP:0001324
Severely reduced ejection fraction
Always present (100%)HP:0012666
Skeletal muscle autophagosome accumulation
Always present (100%)HP:0025717
Cardiomyopathy, hypertrophic
Very frequent (80-99%)HP:0001639
Cardiorespiratory arrest
Very frequent (80-99%)HP:0006543
Gait disturbance
Very frequent (80-99%)HP:0001288
Mental deficiency
Very frequent (80-99%)HP:0001249
Muscle flaccidity
Very frequent (80-99%)HP:0010547
Stretched and thinned heart muscle
Very frequent (80-99%)HP:0001644
Increased QRS voltage
Frequent (30-79%)HP:0025075
Interruption of electrical communication between upper and lower chambers of heart
Frequent (30-79%)HP:0001678
Limb muscle weakness
Frequent (30-79%)HP:0003690
Lower limb amyotrophy
Frequent (30-79%)HP:0007210
Pes cavus
Frequent (30-79%)HP:0001761
Poor vision
Frequent (30-79%)HP:0000505
Primary atrial arrhythmia
Frequent (30-79%)HP:0001692
Second degree atrioventricular block
Frequent (30-79%)HP:0011706
Syncope
Frequent (30-79%)HP:0001279
Ventricular tachycardia
Frequent (30-79%)HP:0004756
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Wolff-Parkinson-White syndrome
Frequent (30-79%)HP:0001716
Decreased muscle movement
HP:0002375
EMG: myopathic changes
HP:0003458
Increased heart size
HP:0001640
Intellectual impairment
Excluded (<1%)HP:0100543
Muscle atrophy, generalised
HP:0003700
Muscle cramps with exertion
HP:0003710
Myocardial fibrosis
HP:0001685
Quick Facts
- SNOMED CT
- 419097006
- UMLS CUI
- C0878677
- Fully Specified Name
- Glycogen storage disease due to lysosomal associated membrane protein 2 deficiency (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.