OBO ID: DOID:0111493
Term Name: combined oxidative phosphorylation deficiency 12 Search Ontology:
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 EARS2 on chromosome 16p12.2. (2)
References:
Ontology: Human Disease   (DOID:0111493)
OTHER combined oxidative phosphorylation deficiency 12 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EARS2 Combined oxidative phosphorylation deficiency 12 614924
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None