Overview
Complex II deficiency 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.
Cognitive delay
Always present (100%)HP:0001263
Decreased activity of mitochondrial complex II
Always present (100%)HP:0008314
Elevated lactate:pyruvate ratio
Always present (100%)HP:0032653
Increased blood lactate
Always present (100%)HP:0002151
Instability or lack of coordination of central trunk muscles
Always present (100%)HP:0002078
Abnormality of the cardiovascular system
Frequent (30-79%)HP:0001626
Cardiomyopathy, hypertrophic
Frequent (30-79%)HP:0001639
Decreased visual acuity
Frequent (30-79%)HP:0007663
Delayed motor milestones
Frequent (30-79%)HP:0001270
Distal muscle atrophy, upper and lower limbs
Frequent (30-79%)HP:0003693
Easy fatigability
Frequent (30-79%)HP:0003388
Extensor plantar responses
Frequent (30-79%)HP:0003487
Eye disease
Frequent (30-79%)HP:0000478
Generalized myoclonic seizure
Frequent (30-79%)HP:0002123
Hyperactive deep tendon reflexes
Frequent (30-79%)HP:0006801
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Left ventricular impairment
Frequent (30-79%)HP:0005162
Left ventricular wall hypertrophy
Frequent (30-79%)HP:0001712
Mental deterioration in childhood
Frequent (30-79%)HP:0002376
Muscle weakness, generalised
Frequent (30-79%)HP:0003324
Overactive knee reflex
Frequent (30-79%)HP:0007083
Progressive degeneration of movement
Frequent (30-79%)HP:0002333
Progressive psychomotor deterioration
Frequent (30-79%)HP:0007272
Proximal limb muscle weakness
Frequent (30-79%)HP:0003701
Short stature, proportionate
Frequent (30-79%)HP:0003508
Short stature, severe
Frequent (30-79%)HP:0003510
Skeletal myopathy
Frequent (30-79%)HP:0003756
Upper limb hyperreflexia
Frequent (30-79%)HP:0007350
Weight loss
Frequent (30-79%)HP:0001824
Abnormal atrioventricular conduction
Occasional (5-29%)HP:0005150
Quick Facts
- SNOMED CT
- 237989003
- UMLS CUI
- C1855008
- Fully Specified Name
- Succinate-coenzyme Q reductase deficiency (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.