Human genes for aspartylglucosaminuria
Aspartylglucosaminuria [DOID:0050461]
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
Synonyms: aspartylglucosaminuria, aspartylglucosaminurias, DOID:0050461, aspartylglucosaminidase deficiency, aspartylglycosaminuria ...
Linkouts: OMIM