Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal skeletal muscle fibre morphology
Frequent (30-79%)HP:0004303
Delayed motor milestones
Frequent (30-79%)HP:0001270
High arched palate
Frequent (30-79%)HP:0000218
Reduced tendon reflexes
Frequent (30-79%)HP:0001315
Vertical enlargement of face
Frequent (30-79%)HP:0000276
Central hypoventilation
Occasional (5-29%)HP:0007110
Delay in head control
Occasional (5-29%)HP:0002421
Difficulty running
Occasional (5-29%)HP:0009046
Difficulty walking up stairs
Occasional (5-29%)HP:0003551
Dropped arches
Occasional (5-29%)HP:0001763
Enlarged aortic root
Occasional (5-29%)HP:0002616
Facial palsy
Occasional (5-29%)HP:0010628
Fatiguable weakness of proximal limb muscles
Occasional (5-29%)HP:0030200
Frequent falls
Occasional (5-29%)HP:0002359
Generalised decreased muscle tone
Occasional (5-29%)HP:0001290
Gowers sign
Occasional (5-29%)HP:0003391
Hypernasal voice
Occasional (5-29%)HP:0001611
Increased lumbar lordosis
Occasional (5-29%)HP:0002938
Increased variation in muscle fibre size
Occasional (5-29%)HP:0003557
Lower limb amyotrophy
Occasional (5-29%)HP:0007210
Lower limb muscle weakness
Occasional (5-29%)HP:0007340
Mitral valve prolapse
Occasional (5-29%)HP:0001634
Muscle atrophy, generalised
Occasional (5-29%)HP:0003700
Pectus excavatum
Occasional (5-29%)HP:0000767
Pes valgus
Occasional (5-29%)HP:0008081
Reduced systolic function
Occasional (5-29%)HP:0006673
Sinus tach
Occasional (5-29%)HP:0011703
Thoracic scoliosis
Occasional (5-29%)HP:0002943
Tired easily
Occasional (5-29%)HP:0003388
Walking on tiptoes
Occasional (5-29%)HP:0030051
Quick Facts
- SNOMED CT
- 703532002
- UMLS CUI
- C3710589
- Fully Specified Name
- Cap myopathy (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.