Overview
Limb girdle muscular dystrophy type R24 is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delayed motor milestones
Frequent (30-79%)HP:0001270
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Increased size of calf muscles
Frequent (30-79%)HP:0008981
Muscle inflammation
Frequent (30-79%)HP:0100614
Poor school performance
Frequent (30-79%)HP:0001249
Poor speech
Frequent (30-79%)HP:0002465
Proximal muscle weakness in lower limbs
Frequent (30-79%)HP:0008994
Atresia of bile ducts
Occasional (5-29%)HP:0005912
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Difficulty running
Occasional (5-29%)HP:0009046
Low levels of vitamin K
Occasional (5-29%)HP:0011892
Muscle wasting
Occasional (5-29%)HP:0003202
Standing instability
Occasional (5-29%)HP:0003698
Quick Facts
- SNOMED CT
- 1279884000
- UMLS CUI
- C5680123
- Fully Specified Name
- Protein O-mannose beta-1,4-n-acetylglucosaminyltransferase 2-related limb girdle muscular dystrophy R24 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 13
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.