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Combined oxidative phosphorylation defect type 8
disorderSNOMED 733600007CUI C4518839
Overview
Combined oxidative phosphorylation defect type 8 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.
Cardiomyopathy, hypertrophic
Always present (100%)HP:0001639
Decreased activity of mitochondrial complex I
Always present (100%)HP:0011923
Decreased activity of mitochondrial complex IV
Always present (100%)HP:0008347
Electroencephalogram abnormal
Always present (100%)HP:0002353
Poorly developed lungs
Always present (100%)HP:0002089
Reduced ejection fraction
Always present (100%)HP:0012664
Undergrowth
Always present (100%)HP:0001508
Chronic heart failure
Frequent (30-79%)HP:0001635
Decreased activity of cytochrome C oxidase in muscle tissue
Frequent (30-79%)HP:0003688
Delayed motor milestones
Frequent (30-79%)HP:0001270
Feeding difficulties
Frequent (30-79%)HP:0011968
Hyporeflexia
Frequent (30-79%)HP:0001265
Increased blood lactate
Frequent (30-79%)HP:0002151
Increased heart size
Frequent (30-79%)HP:0001640
Increased variation in muscle fibre size
Frequent (30-79%)HP:0003557
Lacticacidemia
Frequent (30-79%)HP:0003128
Metabolic acidosis
Frequent (30-79%)HP:0001942
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Staring gaze
Frequent (30-79%)HP:0025401
Quick Facts
- SNOMED CT
- 733600007
- UMLS CUI
- C4518839
- Fully Specified Name
- Combined oxidative phosphorylation defect type 8 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.