" /> Beta-Mannosidosis - CISMeF





Preferred Label : Beta-Mannosidosis;

NCIt definition : An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.;

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03/05/2025


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