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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation type IIn
Summary
- Synonym
-
- CDG IIn
- CDG syndrome type IIn
- CDG2N
- CDGIIdn
- Carbohydrate deficient glycoprotein syndrome type IIn
- Congenital disorder of glycosylation type 2n
- SLC39A8-CDG
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070266
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9C0K1 | Metal cation symporter ZIP8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002987 | Elbow flexion contracture |
| HP:0001332 | Dystonia |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0002421 | Poor head control |
| HP:0012368 | Flat face |
| HP:0001531 | Failure to thrive in infancy |
| HP:0006829 | Severe muscular hypotonia |
| HP:0000639 | Nystagmus |
| HP:0002540 | Inability to walk |
| HP:0000365 | Hearing impairment |
