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Beta-mannosidosis

Disease Export to PDF
Name:
Beta-mannosidosis
Description:
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.
ORPHAcode:
118
Synonyms:
Beta-mannosidase deficiency
XREF(s):
Orphanet
MeSH
ICD-10
OMIM
Analyte(s):
MANBA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14