combined oxidative phosphorylation deficiency 39
ORPHA: 565624
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 39, sourced from HPO and Orphanet clinical annotations.
Optic disc pallorDelayed speech and language developmentReduced eye contactScoliosisMuscle spasmBabinski signInvoluntary movementsCongenital foot contracturesLateral ventricle dilatationAtrophy/Degeneration affecting the brainstemCorpus callosum atrophyAnkle clonusNasogastric tube feeding in infancyProminent calcaneusTip-toe gaitLeg dystoniaAbnormal corpus callosum morphologyAbnormal cerebellum morphologyCerebellar hypoplasiaAbsent speechBradycardiaPoor head controlIncreased CSF lactateAbnormal cerebral white matter morphologyLoss of ambulationDeep white matter hypodensitiesNo social interactionFeeding difficulties in infancyAxial hypotoniaSevere global developmental delayAbnormal circulating enzyme concentration or activityHyperintensity of cerebral white matter on MRICryptorchidismOpen mouthMicrocephalyDecreased nerve conduction velocitySeizureDysarthriaMuscle weaknessHyperreflexiaIntrauterine growth retardationNeonatal hypoglycemiaVomitingMyopathic faciesCerebral atrophyLower limb spasticityHypoplasia of the corpus callosumIncreased circulating lactate concentrationDroolingEEG abnormalityLimb hypertoniaHypsarrhythmia
Classification & Codes
Orphanet Code
ORPHA:565624combined oxidative phosphorylation deficiency 39
| Orphanet | ORPHA:565624 |
| Treatments | 0 drug(s) |
| Symptoms on record | 52 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO