combined oxidative phosphorylation deficiency 12 (DOID:0111493)
Alliance: disease page
Synonyms: COXPD12; leukoencephalopathy with thalamus and brainstem involvement and high lactate; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome; LTBL
Alt IDs: OMIM:614924, ORDO:314051
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.