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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:0001263 | Global developmental delay |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0001382 | Joint hypermobility |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001252 | Hypotonia |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0001249 | Intellectual disability |
| HP:0002059 | Cerebral atrophy |
