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Combined oxidative phosphorylation defect type 2
disorderSNOMED 764943000CUI C1864843
Overview
Combined oxidative phosphorylation defect type 2 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.
Absence of corpus callosum
Always present (100%)HP:0001274
Birth weight less than 10th percentile
Always present (100%)HP:0001518
Brachydactyly
Always present (100%)HP:0001156
Congenital hypotonia
Always present (100%)HP:0001319
Decreased activity of mitochondrial complex IV
Always present (100%)HP:0008347
Decreased muscle movement
Always present (100%)HP:0002375
Edema
Always present (100%)HP:0000969
Elevated liver enzymes
Always present (100%)HP:0002910
Feeding difficulties in infancy
Always present (100%)HP:0008872
Inactivity
Always present (100%)HP:0001254
Increased blood lactate
Always present (100%)HP:0002151
Lacticacidemia
Always present (100%)HP:0003128
Low-set ears
Always present (100%)HP:0000369
Mild fetal ventriculomegaly
Always present (100%)HP:0010952
PDA
Always present (100%)HP:0001643
Redundant neck skin
Always present (100%)HP:0005989
Respiratory complex deficiency, ATPase deficiency
Always present (100%)HP:0011925
Respiratory complex I deficiency
Always present (100%)HP:0011923
Respiratory complex III deficiency
Always present (100%)HP:0011924
Quick Facts
- SNOMED CT
- 764943000
- UMLS CUI
- C1864843
- Fully Specified Name
- Combined oxidative phosphorylation defect type 2 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.