| Term Name: | combined oxidative phosphorylation deficiency 28 |
|---|---|
| Synonyms: | COXPD28, neonatal severe cardiopulmonary failure due to mitochondrial methylation defect |
| Definition: | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. |
| Ontology: | Human Disease [DOID:0111470] ( DOID:0111470 ) |