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MIRAGE
congenital disorder of glycosylation type IIn
Summary
- Synonym
-
- CDG IIn
- CDG syndrome type IIn
- CDG2N
- CDGIIn
- 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
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9C0K1 | Metal cation symporter ZIP8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008277 | Abnormal blood zinc concentration |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0009826 | Limb undergrowth |
| HP:0010621 | Cutaneous syndactyly of toes |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0012368 | Flat face |
| HP:0012736 | Profound global developmental delay |
| HP:0000007 | Autosomal recessive inheritance |
