mitochondrial DNA depletion syndrome 12b
ORPHA: 1369
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 12b, sourced from HPO and Orphanet clinical annotations.
StrabismusGlaucomaAbnormal electroretinogramCataractMyopiaNystagmusCorneal dystrophyHypertrophic cardiomyopathyLactic acidosisMyopathy
Classification & Codes
Orphanet Code
ORPHA:1369mitochondrial DNA depletion syndrome 12b
| Orphanet | ORPHA:1369 |
| Treatments | 0 drug(s) |
| Symptoms on record | 10 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO