Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital muscular dystrophy
Very frequent (80-99%)HP:0003560
Minicore myopathy
Very frequent (80-99%)HP:0003789
Myopathy
Very frequent (80-99%)HP:0003198
Abnormal electromyography finding
Frequent (30-79%)HP:0003457
Abnormal skeletal muscle fibre morphology
Frequent (30-79%)HP:0004303
Decreased body height
Frequent (30-79%)HP:0004322
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Ligamentous laxity
Frequent (30-79%)HP:0001382
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Proximal muscle weakness in upper limbs
Frequent (30-79%)HP:0008997
Respiratory failure due to muscle weakness
Frequent (30-79%)HP:0002747
Respiratory function loss
Frequent (30-79%)HP:0002093
Scoliosis
Frequent (30-79%)HP:0002650
Spinal rigidity
Frequent (30-79%)HP:0003306
Squint
Frequent (30-79%)HP:0000486
Stiff joint
Frequent (30-79%)HP:0001387
Undergrowth
Frequent (30-79%)HP:0001508
Arthrogryposis multiplex
Occasional (5-29%)HP:0002804
CPEO
Occasional (5-29%)HP:0000544
Distal limb muscle weakness due to peripheral neuropathy
Occasional (5-29%)HP:0002460
Malignant hyperthermia
Occasional (5-29%)HP:0002047
Quick Facts
- SNOMED CT
- 55133004
- UMLS CUI
- C0270962
- Fully Specified Name
- Multi-core congenital myopathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 21
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.