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Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disorderSNOMED 237988006CUI C1838979
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Apnea
Always present (100%)HP:0002104
Blue discoloration of the skin
Always present (100%)HP:0000961
Feeding difficulties in infancy
Always present (100%)HP:0008872
Generalized tonic-clonic seizure (without specification of onset)
Always present (100%)HP:0002069
Hyperalaninemia
Always present (100%)HP:0003348
Hypospadias
Always present (100%)HP:0000047
Respiratory complex I deficiency
Always present (100%)HP:0011923
Respiratory complex III deficiency
Always present (100%)HP:0011924
Respiratory failure
Always present (100%)HP:0002878
Severe lactic acidosis
Always present (100%)HP:0004900
Tongue fasciculations/fibrillations
Always present (100%)HP:0001308
Undetectable VEP
Always present (100%)HP:0007965
Abnormal eye movements, paroxysmal
Very frequent (80-99%)HP:0007704
Abnormal mitochondria in muscle tissue
Very frequent (80-99%)HP:0008316
Ataxia
Very frequent (80-99%)HP:0001251
Cardiomyopathy, hypertrophic
Very frequent (80-99%)HP:0001639
Damaged optic nerve
Very frequent (80-99%)HP:0001138
Delay in head control
Very frequent (80-99%)HP:0002421
Dullness
Very frequent (80-99%)HP:0001254
Encephalopathy
Very frequent (80-99%)HP:0001298
Enlarged liver
Very frequent (80-99%)HP:0002240
Eyelid ptosis
Very frequent (80-99%)HP:0000508
Focal T2 hyperintense brainstem lesion
Very frequent (80-99%)HP:0012748
Increased CSF lactic acid
Very frequent (80-99%)HP:0002490
Increased serum pyruvate
Very frequent (80-99%)HP:0003542
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Involuntary, rapid, rhythmic eye movements
Very frequent (80-99%)HP:0000639
Lacticacidosis
Very frequent (80-99%)HP:0003128
Leukodystrophy
Very frequent (80-99%)HP:0002415
Leukoencephalopathy
Very frequent (80-99%)HP:0002352
Related Conditions
Mitochondrial respiratory chain complex I structural subunit gene defect(child)
Mitochondrial respiratory chain complex I assembly gene defect(child)
Deficiency in enzyme complexes of mitochondrial respiratory chain(parent)
Mitochondrial myopathy(parent)
Deficiency of ubiquinone reductase(parent)
Hereditary disorder of musculoskeletal system(parent)
Inherited metabolic disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 237988006
- UMLS CUI
- C1838979
- Fully Specified Name
- Nicotinamide adenine dinucleotide 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.