" /> Molybdenum Cofactor Deficiency - CISMeF





Preferred Label : Molybdenum Cofactor Deficiency;

NCIt definition : An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.;

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03/05/2025


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