combined oxidative phosphorylation deficiency 23
ORPHA: 444013
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with combined oxidative phosphorylation deficiency 23, sourced from HPO and Orphanet clinical annotations.
Hypertrophic cardiomyopathyLactic acidosisAbnormality of the nervous systemFloppy infantVisual impairmentCyanosisSeizureMild intellectual disabilityGlobal developmental delayFailure to thriveCongestive heart failureRight ventricular hypertrophyLeft ventricular hypertrophyWolff-Parkinson-White syndromeLeukodystrophyRespiratory failureEasy fatigabilityDecreased activity of mitochondrial complex IVFeeding difficulties in infancyStridorDecreased activity of mitochondrial complex ISeverely reduced left ventricular ejection fractionAbnormal thalamic MRI signal intensityAbnormal brainstem MRI signal intensityAbnormal basal ganglia MRI signal intensityParoxysmal dyspneaCognitive impairment
Classification & Codes
Orphanet Code
ORPHA:444013combined oxidative phosphorylation deficiency 23
| Orphanet | ORPHA:444013 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO