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congenital disorder of glycosylation type IIf
Summary
- Synonym
-
- CDG IIf
- CDG2F
- CDGIIdf
- CMP-sialic acid transporter deficiency
- Carbohydrate deficient glycoprotein syndrome type IIf
- SLC35A1-CDG
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070258
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78382 | CMP-sialic acid transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001892 | Abnormal bleeding |
| HP:0002098 | Respiratory distress |
| HP:0001298 | Encephalopathy |
| HP:0000639 | Nystagmus |
| HP:0003355 | Aminoaciduria |
| HP:0000322 | Short philtrum |
| HP:0001260 | Dysarthria |
| HP:0000093 | Proteinuria |
| HP:0001265 | Hyporeflexia |
| HP:0002465 | Poor speech |
