combined oxidative phosphorylation defect type 27
ORPHA: 477774
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 defect type 27, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentProgressive visual lossIntellectual disabilityGlobal developmental delayGeneralized myoclonic seizureStatus epilepticusIncreased circulating lactate concentrationTetraparesisDevelopmental regressionAbnormal cerebral white matter morphologyDiffuse cerebral atrophyRagged-red muscle fibersDecreased activity of mitochondrial complex IVDecreased activity of mitochondrial complex IDecreased activity of mitochondrial complex IIIMultifocal seizuresEpileptic encephalopathyAutistic behaviorAbsent speechNonimmune hydrops fetalisDysphagiaHypoplasia of the corpus callosumInvoluntary movementsUpper limb postural tremorEEG with periodic lateralized epileptiform dischargesPainHypoplastic hippocampusNasogastric tube feedingDiffuse cerebellar atrophy
Classification & Codes
Orphanet Code
ORPHA:477774combined oxidative phosphorylation defect type 27
| Orphanet | ORPHA:477774 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO