Beta-mannosidosis
Beta-mannosidosis
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.
Also known as Beta-mannosidase deficiency, beta-mannosidosis, lysosomal beta-mannosidase deficiency, mannosidosis, beta — per MONDO