Beta-mannosidosis

Orpha code: 118OMIM code: 248510

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.

Disease data
Classification

Disease

Synonyms
Niedobór beta-mannozydazy
Beta-mannosidase deficiency
Niedobór lizosomalnej beta-mannozydazy
ORPHA code
118
OMIM code
248510
ICD10 code
E77.1
ICD11 code
5C56.21

No additional description.

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