| Metadata | |
|---|---|
| ID | DOID:0111493 |
| Name | combined oxidative phosphorylation deficiency 12 |
| Definition | A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. https://www.ncbi.nlm.nih.gov/pubmed/22492562, https://www.ncbi.nlm.nih.gov/pubmed/23008233 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
COXPD12 [EXACT] leukoencephalopathy with thalamus and brainstem involvement and high lactate [EXACT] leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome [EXACT] LTBL [EXACT] |
| Parent Relationships |