has material basis in germline mutation in EARS2 combined oxidative phosphorylation deficiency leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome https://www.malacards.org/card/combined_oxidative_phosphorylation_deficiency_12 COXPD12 GARD:0013381 MEDGEN:1645614 leukoencephalopathy with thalamus and brainstem involvement and high lactate DOID:0111493 UMLS:C4706421 OMIM:614924 combined oxidative phosphorylation deficiency caused by mutation in EARS2 MONDO:0013971 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward. combined oxidative phosphorylation defect type 12 EARS2 combined oxidative phosphorylation deficiency leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome Orphanet:314051 SCTID:763366000 combined oxidative phosphorylation deficiency 12 combined oxidative phosphorylation deficiency type 12 LTBL leukodystrophy