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ENCombined Oxidative Phosphorylation Deficiency 12 (COXPD12)
Alias:
Coxpd12
Ltbl
Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate
Leukoencephalopathy-Thalamus and Brainstem Anomalies-High Lactate Syndrome
Combined Oxidative Phosphorylation Defect Type 12
Combined Oxidative Phosphorylation Deficiency, Type 12
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Combined Oxidative Phosphorylation Deficiency 12, also known as coxpd12, is related to mitochondrial disease and lactic acidosis, and has symptoms including ophthalmoplegia and seizures. An important gene associated with Combined Oxidative Phosphorylation Deficiency 12 is EARS2 (Glutamyl-TRNA Synthetase 2, Mitochondrial), and among its related pathways/superpathways are Metabolism of proteins and Peptide chain elongation. Affiliated tissues include thalamus and medulla oblongata, and related phenotypes are hepatomegaly and cleft palate
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