| Metadata | |
|---|---|
| ID | DOID:0080357 |
| Name | mitochondrial complex IV deficiency nuclear type 2 |
| Definition | A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/10746561/ |
| Xrefs | |
| Synonyms |
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1 [EXACT] MC4DN2 [EXACT] |
| Parent Relationships |