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ENMolybdenum Cofactor Deficiency, Complementation Group C (MOCODC)
Alias:
Sulfite Oxidase Deficiency Due to Molybdenum Cofactor Deficiency Type C
Mocodc
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase Type C
Molybdenum Cofactor Deficiency Type C
Molybdenum Cofactor Deficiency C
Mocod Type C
Deficiency, Molybdenum Cofactor, Complementation Group C
Molybdenum Cofactor Deficiency Complementation Group C
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Molybdenum Cofactor Deficiency, Complementation Group C, also known as sulfite oxidase deficiency due to molybdenum cofactor deficiency type c, is related to d-glyceric aciduria and cerebral creatine deficiency syndrome. An important gene associated with Molybdenum Cofactor Deficiency, Complementation Group C is GPHN (Gephyrin), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye and pons, and related phenotypes are hyperreflexia and hypertonia
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MALACARDS
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