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Echinobase
Summary Literature (0)
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: leukoencephalopathy with thalamus and brainstem involvement and high lactate, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, LTBL, COXPD12

Echinobase Genes : ears2


MIM:
MIM:614924 - combined oxidative phosphorylation deficiency 12; coxpd12

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)