Human genes for combined oxidative phosphorylation deficiency 12
Combined oxidative phosphorylation deficiency 12 [DOID:0111493]
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.
Synonyms: combined oxidative phosphorylation deficiency 12, DOID:0111493, COXPD12, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, leukoencephalopathy with thalamus and brainstem involvement and high lactate ...