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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:0008936 | Axial hypotonia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0010864 | Intellectual disability, severe |
| HP:0011185 | EEG with focal epileptiform discharges |
| HP:0011314 | Abnormal long bone morphology |
| HP:0011968 | Feeding difficulties |
| HP:0012210 | Abnormal renal morphology |
| HP:0012345 | Abnormal glycosylation |
| HP:0012348 | Decreased galactosylation of N-linked protein glycosylation |
| HP:0012363 | Decreased sialylation of O-linked protein glycosylation |
