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congenital disorder of glycosylation type IIc
Summary
- Synonym
-
- CDG IIc
- CDG2C
- CDGIIc
- Rambam-Hasharon syndrome
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070255
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P22083 | Alpha-(1,3)-fucosyltransferase 4 | |
| Q9UBM7 | 7-dehydrocholesterol reductase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001773 | Short foot |
| HP:0000722 | Compulsive behaviors |
| HP:0010529 | Echolalia |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0001252 | Hypotonia |
