A new phenotypic variant of alpha-L-iduronidase deficiency.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D002648:Child; D014644:Genetic Variation; D006026:Glycoside Hydrolases / Q000172:deficiency*; D006801:Humans; D007068:Iduronidase / Q000172:deficiency*; D008297:Male; D010375:Pedigree; D010641:Phenotype
D006026:Glycoside Hydrolases; D007068:Iduronidase