Search Ontology:
Human Disease
combined oxidative phosphorylation deficiency 12
- Term ID
- DOID:0111493
- Synonyms
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- COXPD12
- leukoencephalopathy with thalamus and brainstem involvement and high lactate
- leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
- LTBL
- 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. (2)
- References
-
- GARD:13381
- MIM:614924
- ORDO:314051
- Ontology
- Human Disease ( DOID:0111493 )
- is a type of
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