combined oxidative phosphorylation deficiency 7
ORPHA: 254930
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 7, sourced from HPO and Orphanet clinical annotations.
Visual impairmentOptic atrophySkeletal muscle atrophyOphthalmoplegiaVisual field defectGlobal developmental delayGait disturbanceFailure to thrivePes cavusSpastic paraparesisLower limb hyperreflexiaDistal sensory impairmentPeripheral axonal neuropathyDistal amyotrophyAbnormal pyramidal signLower limb muscle weaknessImpaired tandem gaitCognitive impairmentPtosisNystagmusAtaxiaDysarthriaBulbar palsyAreflexiaFacial diplegiaHypoplasia of the corpus callosumDevelopmental regressionAbnormal cerebral white matter morphologyInability to walkParalytic ileusThoracic scoliosisDecreased number of peripheral myelinated nerve fibersUpper limb muscle weaknessImpaired masticationDyschromatopsiaFloppy infantGastrostomy tube feeding in infancyAbnormal thalamic MRI signal intensityElevated brain lactate level by MRSAbnormal brainstem MRI signal intensityExodeviationOral-pharyngeal dysphagia
Classification & Codes
Orphanet Code
ORPHA:254930combined oxidative phosphorylation deficiency 7
| Orphanet | ORPHA:254930 |
| Treatments | 0 drug(s) |
| Symptoms on record | 42 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO