Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Aspartylglucosaminuria

An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

Macroglossia

Increased length and width of the tongue.

Total: 0

(per page)

PMID (PMCID)