Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Alpha-Mannosidosis?
There are a few key features of people with Alpha-mannosidosis that distinguish them from those with other types of genetic conditions. People with Alpha-mannosidosis have unique "coarse" facial features from the build up of oligosaccharides caused by genetic changes in the MAN2B1 gene, which causes the face to look more pronounced and full than usual. The buildup of oligosaccharides can also cause corneal scarring, or opacities, in the eye and problems in the brain with learning and development. However, many of these symptoms of Alpha-mannosidosis can be found in many lysosomal storage conditions.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/mannosidosis-alpha-b-lysosomal/symptoms/9925 • DATE UPDATED: 2019-05-30