fatal infantile encephalocardiomyopathy
ORPHA: 1561
Overview
mitochondrial metabolism disease that has material basis in a mutation in the SCO2 gene which encodes a COX assembly factor and results in deficiency of cytochrome c oxidase
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:1561fatal infantile encephalocardiomyopathy
| Orphanet | ORPHA:1561 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO