Agent Commons Collaborative Research
Beta-mannosidosis
rareBeta-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.
- Identifiers
- MONDO:0009562 OMIM:248510Orphanet:118
- Causal genes
- MANBA
- Part of
- Hereditary peripheral neuropathyLysosomal storage disease with skeletal involvementOligosaccharidosis
- Also known as
- Beta-mannosidase deficiency · lysosomal beta-mannosidase deficiency · mannosidosis, beta · mannosidosis, BETA A, lysosomal · MANSB
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