DO_rare_slim has material basis in disease has feature autosomal recessive disease neonatal severe encephalopathy with lactic acidosis and brain abnormalities UMLS_CUI:C5681203 MIM:617668 ORDO:447795 DOID:0070752 disease_ontology ORDO:447795 MIM:617668 SNOMEDCT_US_2026_03_01:1269231008 A mitochondrial metabolism disease characterized by onset at birth of progressive encephalopathy with little or no psychomotor development and brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities, associated with increased serum lactate that has_material_basis_in compound heterozygous mutation in the LIPT2 gene on chromosome 11q13. UMLS_CUI:C5681203 ICD10CM:E88.8 ICD10CM:E88.8 NELABA lipoyl transferase 2 deficiency lipoyltransferase 2 deficiency lactic acidosis mitochondrial metabolism disease autosomal recessive inheritance