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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:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
| HP:0001272 | Cerebellar atrophy |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0002187 | Intellectual disability, profound |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0001392 | Abnormality of the liver |
| HP:0006558 | Decreased mitochondrial complex III activity in liver tissue |
| HP:0000540 | Hypermetropia |
| HP:0002521 | Hypsarrhythmia |
| HP:0012736 | Profound global developmental delay |
