combined oxidative phosphorylation deficiency 12

Summary

DOID:0111493 - combined oxidative phosphorylation deficiency 12

Disease Ontology 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.

Synonyms: COXPD12, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, leukoencephalopathy with thalamus and brainstem involvement and high lactate, LTBL

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ears2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined oxidative phosphorylation deficiency (is_a)