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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:0001249 | Intellectual disability |
| HP:0001659 | Aortic regurgitation |
| HP:0000465 | Webbed neck |
| HP:0002310 | Orofacial dyskinesia |
| HP:0001263 | Global developmental delay |
