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QRSL1-related combined oxidative phosphorylation defect
disorderSNOMED 1197430005CUI C5394232
Overview
QRSL1-related combined oxidative phosphorylation defect 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
Hearing impairment
Always present (100%)HP:0000365
Lacticacidosis
Always present (100%)HP:0003128
Low number of red blood cells or haemoglobin
Always present (100%)HP:0001903
Decreased activity of mitochondrial complex IV
Very frequent (80-99%)HP:0008347
Respiratory complex I deficiency
Very frequent (80-99%)HP:0011923
Decreased activity of mitochondrial complex III
Frequent (30-79%)HP:0011924
Elevated serum creatine phosphokinase
Frequent (30-79%)HP:0003236
Hepatopathy
Frequent (30-79%)HP:0001410
Hypocortisolism
Frequent (30-79%)HP:0008163
Nonimmune hydrops fetalis
Frequent (30-79%)HP:0001790
Low blood sugar
Occasional (5-29%)HP:0001943
Premature birth
Occasional (5-29%)HP:0001622
Small for gestational age infant
Occasional (5-29%)HP:0001511
Quick Facts
- SNOMED CT
- 1197430005
- UMLS CUI
- C5394232
- Fully Specified Name
- Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 14
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.