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congenital disorder of glycosylation type IIm
Summary
- Synonym
-
- SLC35A2-CDG
- congenital disorder of glycosylation type 2m
- developmental and epileptic encephalopathy 22
- epileptic encephalopathy, early infantile, 22
- Definition
- A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23.
- Super Class
- X-linked dominant disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070265
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0002925 | Elevated circulating thyroid-stimulating hormone concentration |
| HP:0003121 | Limb joint contracture |
| HP:0003186 | Inverted nipples |
| HP:0004322 | Short stature |
| HP:0005736 | Short tibia |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0007704 | Paroxysmal involuntary eye movements |
| HP:0008695 | Transient nephrotic syndrome |
