| Disease ID | Source | Name | Description |
| 248510 | OMIM | Mannosidosis, beta A, lysosomal (MANSB) | An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes. The disease is caused by variants affecting the gene represented in this entry. |