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Mitochondrial DNA deletion syndrome with limb-girdle weakness
disorderSNOMED 783057002CUI C5192959
Overview
Mitochondrial DNA deletion syndrome with limb-girdle weakness 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.
External ophthalmoplegia, progressive
Very frequent (80-99%)HP:0000590
Limb-girdle muscle weakness
Very frequent (80-99%)HP:0003325
Congenital ptosis
Frequent (30-79%)HP:0007970
Decreased facial expression
Frequent (30-79%)HP:0004673
Decreased fetal movement
Frequent (30-79%)HP:0001558
Decreased mitochondrial number
Frequent (30-79%)HP:0040013
Depression
Frequent (30-79%)HP:0000716
Exertional dyspnea
Frequent (30-79%)HP:0002875
Gait disturbance
Frequent (30-79%)HP:0001288
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Gowers sign
Frequent (30-79%)HP:0003391
Increased creatine phosphokinase after exercise
Frequent (30-79%)HP:0008331
Mitochondrial myopathy
Frequent (30-79%)HP:0003737
Multiple joint contractures
Frequent (30-79%)HP:0002828
Muscle pain
Frequent (30-79%)HP:0003326
Muscle spasm
Frequent (30-79%)HP:0003394
Myopathy
Frequent (30-79%)HP:0003198
Obstructive sleep apnea
Frequent (30-79%)HP:0002870
Prominent swayback
Frequent (30-79%)HP:0003307
Slender build
Frequent (30-79%)HP:0001533
Quick Facts
- SNOMED CT
- 783057002
- UMLS CUI
- C5192959
- Fully Specified Name
- DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 20
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.