combined oxidative phosphorylation deficiency 29
ORPHA: 478029
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 29, sourced from HPO and Orphanet clinical annotations.
RetinopathyOptic neuropathyBilateral tonic-clonic seizureIncreased circulating lactate concentrationNeurodegenerationGlobal brain atrophyIncoordinationSubependymal cystsIncreased CSF lactateGastrointestinal dysmotilityIncreased CSF protein concentrationMyoclonic spasmsAbnormal muscle toneSevere global developmental delayPrimary microcephalyDecreased activity of mitochondrial complex IDecreased activity of mitochondrial complex IIIAbnormal autonomic nervous system physiologyDelayed myelinationGastrojejunal tube feeding in infancyAxonal degenerationDiffuse cerebellar atrophy
Classification & Codes
Orphanet Code
ORPHA:478029combined oxidative phosphorylation deficiency 29
| Orphanet | ORPHA:478029 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO