mitochondrial DNA depletion syndrome 11
ORPHA: 352447
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 mitochondrial DNA depletion syndrome 11, sourced from HPO and Orphanet clinical annotations.
Progressive external ophthalmoplegiaPtosisHyporeflexiaHypernasal speechDysphoniaDilated cardiomyopathyDysphagiaNauseaDyspneaRecurrent infectionsKyphosisRespiratory failureMyopathyRagged-red muscle fibersElevated circulating creatine kinase concentrationSpinal rigidityEasy fatigabilityExercise intoleranceGeneralized amyotrophyNeuropathic spinal arthropathyWeakness of facial musculatureDecreased mitochondrial numberNephrolithiasisRespiratory insufficiency due to muscle weaknessPoor appetiteMicrocephalyHypergonadotropic hypogonadismIntellectual disabilityCerebellar atrophyDiarrheaArrhythmia
Classification & Codes
Orphanet Code
ORPHA:352447mitochondrial DNA depletion syndrome 11
| Orphanet | ORPHA:352447 |
| Treatments | 0 drug(s) |
| Symptoms on record | 31 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO