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.
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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