mitochondrial DNA depletion syndrome 5
MeSH: C567624ORPHA: 1933
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 5, sourced from HPO and Orphanet clinical annotations.
MicrocephalySensorineural hearing impairmentVisual impairmentPtosisAbnormal electroretinogramAbnormality of visual evoked potentialsAtypical behaviorDecreased nerve conduction velocitySeizureAtaxiaGlobal developmental delayHyporeflexiaVentriculomegalyDelayed gross motor developmentGeneralized hirsutismCerebral calcificationSkeletal muscle atrophyElevated circulating creatine kinase concentrationAminoaciduriaShort statureCachexiaIntellectual disabilityMethylmalonic aciduria
Classification & Codes
MeSH Code
C567624Orphanet Code
ORPHA:1933mitochondrial DNA depletion syndrome 5
| MeSH | C567624 |
| Orphanet | ORPHA:1933 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO