Overview
Deficiency of succinic dehydrogenase 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
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
Neurodevelopmental regression
Always present (100%)HP:0002376
Respiratory complex II deficiency
Always present (100%)HP:0008314
Abnormal mitochondria in muscle tissue
HP:0008316
Ataxia
HP:0001251
Cardiomyopathy, hypertrophic
HP:0001639
Cognitive deficits
HP:0100543
Congenital hypotonia
HP:0001319
Decreased body height
HP:0004322
Dystonic movements
HP:0001332
Epilepsy
HP:0001250
Extensor plantar responses
HP:0003487
Eye drop
HP:0000508
Eye muscle paralysis
HP:0000602
Flexion contractures
HP:0001371
Impaired vision
HP:0000505
Increased intramyocellular lipid droplets
HP:0012240
Increased reflexes
HP:0001347
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Involuntary, rapid, rhythmic eye movements
HP:0000639
Jerking
HP:0001336
Left ventricular noncompaction
HP:0030682
Leukoencephalopathy
HP:0002352
Metabolic crises during febrile infections
HP:0004897
Muscle weakness
HP:0001324
Optic atrophy
HP:0000648
Pigmentary retinopathy
HP:0000580
Related Conditions
Quick Facts
- SNOMED CT
- 124165006
- UMLS CUI
- C1291270
- Fully Specified Name
- Deficiency of succinate dehydrogenase (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.