| Metadata | |
|---|---|
| ID | DOID:0111481 |
| Name | combined oxidative phosphorylation deficiency 11 |
| Definition | A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. https://www.ncbi.nlm.nih.gov/pubmed/23022099 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD11 [EXACT] infantile encephaloneuromyopathy due to mitochondrial translation defect [EXACT] |
| Parent Relationships |