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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
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001347 | Hyperreflexia |
| HP:0001363 | Craniosynostosis |
| HP:0001392 | Abnormality of the liver |
| HP:0001531 | Failure to thrive in infancy |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002187 | Intellectual disability, profound |
| HP:0002421 | Poor head control |
| HP:0002465 | Poor speech |
| HP:0002490 | Increased CSF lactate |
