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Standards Ontologies Notations
developmental and epileptic encephalopathy 36

Summary
Synonym
  • congenital disorder of glycosylation, type Is
  • early infantile epileptic encephalopathy 36
Definition
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
Super Class
X-linked dominant disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080470
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying entries 11 - 15 of 15 in total
Gene ID Gene Symbol Description Source
79087 ALG12 ALG12 alpha-1,6-mannosyltransferase
79868 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
84342 COG8 component of oligomeric golgi complex 8
91869 RFT1 RFT1 homolog
147007 TMEM199 transmembrane protein 199
Displaying 1 entry
Gene ID Gene Symbol Description Source
67574 Alg13 asparagine-linked glycosylation 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
300284 Alg13l1 ALG13, UDP-N-acetylglucosaminyltransferase subunit like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
557181 alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
549862 alg13l ALG13, UDP-N-acetylglucosaminyltransferase subunit-like Xenopus tropicalis (tropical clawed frog)
108698403 alg13.L ALG13 UDP-N-acetylglucosaminyltransferase subunit L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179890 algn-13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852835 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase catalytic subunit ALG13
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 48 in total
HPO ID HPO Term
HP:0000817 Reduced eye contact
HP:0012443 Abnormal brain morphology
HP:0000463 Anteverted nares
HP:0002312 Clumsiness
HP:0000331 Short chin
HP:0002521 Hypsarrhythmia
HP:0000717 Autism
HP:0100543 Cognitive impairment
HP:0001290 Generalized hypotonia
HP:0000316 Hypertelorism
Displaying 1 entry
Gene ID Gene Symbol Description
79868 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
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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

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Last updated: August 19, 2024