| Metadata | |
|---|---|
| ID | DOID:0111483 |
| Name | combined oxidative phosphorylation deficiency 2 |
| Definition | A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. https://www.ncbi.nlm.nih.gov/pubmed/15505824 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
agenesis of corpus callosum with dysmorphism and fatal lactic acidosis [EXACT] COXPD2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |