title: Mutations in NGLY1 gene linked with new genetic disorder: parents' reports of children's symptoms help facilitate the discovery.
mesh_terms: D056726:Genetic Association Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010290:Parents; D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase / Q000235:genetics*; D010641:Phenotype
chemical_list: D043524:Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase