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 entries 21 - 30 of 101 in total
HPO ID HPO Term
HP:0001382 Joint hypermobility
HP:0001511 Intrauterine growth retardation
HP:0001531 Failure to thrive in infancy
HP:0001627 Abnormal heart morphology
HP:0001636 Tetralogy of Fallot
HP:0001762 Talipes equinovarus
HP:0001840 Metatarsus adductus
HP:0001999 Abnormal facial shape
HP:0002020 Gastroesophageal reflux
HP:0002059 Cerebral atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
7355 SLC35A2 solute carrier family 35 member A2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024