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
Displaying 1 entry
Gene ID Gene Symbol Description Source
7355 SLC35A2 solute carrier family 35 member A2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31255 Ugalt UDP-galactose transporter
The Human Phenotype Ontology
Displaying entry 101 - 101 of 101 in total
HPO ID HPO Term
HP:0200134 Epileptic encephalopathy
Displaying 1 entry
Gene ID Gene Symbol Description
7355 SLC35A2 solute carrier family 35 member A2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024