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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:0002280 | Enlarged cisterna magna |
| HP:0002421 | Poor head control |
| HP:0002719 | Recurrent infections |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0003623 | Neonatal onset |
| HP:0006297 | Enamel hypoplasia |
| HP:0011090 | Fused teeth |
| HP:0011097 | Epileptic spasm |
| HP:0012471 | Thick vermilion border |
