Search Ontology:
Human Disease

combined oxidative phosphorylation deficiency 12

Term ID
DOID:0111493
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. (2)
References
Ontology
Human Disease   ( DOID:0111493 )
Relationships
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Genes Involved
Zebrafish Models