Pub. Date : 2020 Apr 1
PMID : 32293671
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Here, we report the clinical, biochemical, and molecular features of seven patients from four families with GALNT2-congenital disorder of glycosylation (GALNT2-CDG), an O-linked glycosylation disorder. | -cdg | polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens |
| 2 | Patients with GALNT2-CDG generally exhibit a syndrome characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioural abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. | Cholesterol | polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens |