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MIRAGE
congenital disorder of glycosylation Iw
Summary
- Synonym
-
- congenital disorder of glycosylation 1w
- Definition
- A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P46977 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P39007 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3 |
