Overview
Deficiency of 2,4-dienoyl-CoA reductase 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.
Ataxia
Always present (100%)HP:0001251
Clonus
Always present (100%)HP:0002169
Colpocephaly
Always present (100%)HP:0030048
Decreased plasma free carnitine
Always present (100%)HP:0008315
Delay in head control
Always present (100%)HP:0002421
Delayed CNS myelination
Always present (100%)HP:0002188
Encephalopathy
Always present (100%)HP:0001298
Eye muscle paralysis
Always present (100%)HP:0000602
Feeding difficulties
Always present (100%)HP:0011968
Generalised hyperreflexia
Always present (100%)HP:0007034
Higher than normal levels of lactate in blood
Always present (100%)HP:0002151
Hyperopia
Always present (100%)HP:0000540
Incoordination
Always present (100%)HP:0002311
Increased CSF lactic acid
Always present (100%)HP:0002490
Increased CSF lysine concentration
Always present (100%)HP:0500208
Involuntary muscle stiffness, contraction, or spasm
Always present (100%)HP:0001257
Lysinuria
Always present (100%)HP:0003297
Metabolic acidosis
Always present (100%)HP:0001942
Muscular hypotonia
Always present (100%)HP:0001252
Myoclonic absences
Always present (100%)HP:0011150
Nonsyndromal hydrocephalus
Always present (100%)HP:0000238
Optic atrophy
Always present (100%)HP:0000648
Poor sucking
Always present (100%)HP:0002033
Quadriplegia
Always present (100%)HP:0002445
Reduced liver 2,4-dienoyl-CoA reductase activity
Always present (100%)HP:0034919
Reduced muscle 2,4-dienoyl-CoA reductase activity
Always present (100%)HP:0034918
Small for gestational age infant
Always present (100%)HP:0001511
Supratentorial atrophy
Always present (100%)HP:0002059
Abnormal basal ganglia MRI signal intensity
Frequent (30-79%)HP:0012751
Abnormal circulating carnitine concentration
Frequent (30-79%)HP:0010967
Related Conditions
Quick Facts
- SNOMED CT
- 444944006
- UMLS CUI
- C1857252
- Fully Specified Name
- Deficiency of 2,4-dienoyl-coenzyme A reductase (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.