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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:0000252 | Microcephaly |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000478 | Abnormality of the eye |
| HP:0000486 | Strabismus |
| HP:0000577 | Exotropia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000826 | Precocious puberty |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000938 | Osteopenia |
