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Beta-mannosidosis

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.

ORPHA:118

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
  • ICD-11: 5C56.21
  • OMIM: 248510
  • UMLS: C4048196
  • MeSH: D044905
  • GARD: 869
  • MedDRA: -

  A summary on this disease is available in Español (2015) Français (2015) Nederlands (2015) Português (2005) Deutsch (2002)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.