FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term combined oxidative phosphorylation deficiency 12 ID (Ontology) DOID:0111493 (Human Disease)
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.
Also Known As "COXPD12" ; "leukoencephalopathy with thalamus and brainstem involvement and high lactate" ; "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" (for all, see Synonyms field below)
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 Genes
 combined oxidative phosphorylation deficiency 12       1
 for disease ribbon | combined oxidative phosphorylation deficiency 12       1
 model of | combined oxidative phosphorylation deficiency 12       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____________________
mitochondrial metabolism disease                   |
 |__combined oxidative phosphorylation deficiency__|
                                                   combined oxidative phosphorylation deficiency 12  1 rec.
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Is a autosomal recessive disease
combined oxidative phosphorylation deficiency
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Synonyms
  • "COXPD12" EXACT OMO:0003012
    "leukoencephalopathy with thalamus and brainstem involvement and high lactate" EXACT
    "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT
    "LTBL" EXACT OMO:0003012
Secondary IDs
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GARD:13381
MIM:614924
ORDO:314051