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congenital disorder of glycosylation type IIf
Summary
- Synonym
-
- CDG IIf
- CDG2F
- CDGIIdf
- CMP-sialic acid transporter deficiency
- Carbohydrate deficient glycoprotein syndrome type IIf
- SLC35A1-CDG
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070258
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000490 | Deeply set eye |
| HP:0005469 | Flat occiput |
| HP:0001250 | Seizure |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001251 | Ataxia |
| HP:0000252 | Microcephaly |
| HP:0002718 | Recurrent bacterial infections |
| HP:0000601 | Hypotelorism |
| HP:0001290 | Generalized hypotonia |
| HP:0003593 | Infantile onset |
