Orphanet: Beta mannosidosis

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Disease definition

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.


Classification level: Disorder
  • Synonym(s):
    • Beta-mannosidase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent, Adult
  • ICD-10: E77.1
  • OMIM: 248510
  • UMLS: C0342849  C2931893
  • MeSH: D044905
  • GARD: 869
  • MedDRA: -
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