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 31 - 40 of 101 in total
HPO ID HPO Term
HP:0002079 Hypoplasia of the corpus callosum
HP:0002086 Abnormality of the respiratory system
HP:0002418 Abnormal midbrain morphology
HP:0002500 Abnormal cerebral white matter morphology
HP:0002521 Hypsarrhythmia
HP:0002539 Cortical dysplasia
HP:0002540 Inability to walk
HP:0002650 Scoliosis
HP:0002673 Coxa valga
HP:0002715 Abnormality of the immune system
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