This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major symptoms may include coarse facial fea ...
For more information, visit GARD
Last Updated: 08/17/2011