combined oxidative phosphorylation deficiency 13
ORPHA: 319514
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 13, sourced from HPO and Orphanet clinical annotations.
Intrauterine growth retardationAbnormal basal ganglia morphologyOrofacial dyskinesiaHip contractureSubsarcolemmal accumulations of abnormally shaped mitochondriaType 2 muscle fiber atrophyType 1 muscle fiber predominanceAnkle flexion contractureLower limb hypertoniaGastrostomy tube feeding in infancyFeeding difficultiesElevated CSF neopterin levelIncreased circulating lactate concentrationMitochondrial respiratory chain defectsSensorineural hearing impairmentNystagmusChoreoathetosisGeneralized hypotoniaMuscle weaknessPoor head controlLimb dystoniaIncreased CSF lactateProfound static encephalopathyAxial hypotoniaAbnormal corpus striatum morphologyDelayed myelinationAbnormality of eye movementDevelopmental cataractDecreased nerve conduction velocitySensory neuropathyAbnormal corpus callosum morphologyAbsent speechFailure to thrive
Classification & Codes
Orphanet Code
ORPHA:319514combined oxidative phosphorylation deficiency 13
| Orphanet | ORPHA:319514 |
| Treatments | 0 drug(s) |
| Symptoms on record | 33 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO