Term Name:	combined oxidative phosphorylation deficiency 12
Synonyms:	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.
Ontology:	Human Disease [DOID:0111493]   ( DOID:0111493 )