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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

MONDO:0010472

ORDO

324422

OMIM

300884

GARD

12401

Related Genes

Displaying entries **11 - 15** of 15 in total

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Gene ID	Gene Symbol	Description	Source
79087	ALG12	ALG12 alpha-1,6-mannosyltransferase	DisGeNET
79868	ALG13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	Glyco-Disease Genes Database DisGeNET DisGeNET Alliance of Genome Resources
84342	COG8	component of oligomeric golgi complex 8	DisGeNET
91869	RFT1	RFT1 homolog	DisGeNET
147007	TMEM199	transmembrane protein 199	DisGeNET

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
67574	Alg13	asparagine-linked glycosylation 13	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
300284	Alg13l1	ALG13, UDP-N-acetylglucosaminyltransferase subunit like 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
557181	alg13	ALG13 UDP-N-acetylglucosaminyltransferase subunit	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
549862	alg13l	ALG13, UDP-N-acetylglucosaminyltransferase subunit-like	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108698403	alg13.L	ALG13 UDP-N-acetylglucosaminyltransferase subunit L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
179890	algn-13	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
852835	ALG13	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase catalytic subunit ALG13	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 9** entries
UniProt ID	Protein Name	Source
O15305	Phosphomannomutase 2	DisGeNET
P05362	Intercellular adhesion molecule 1	DisGeNET
P34949	Mannose-6-phosphate isomerase	DisGeNET
Q93063	Exostosin-2	DisGeNET
Q96MW5	Conserved oligomeric Golgi complex subunit 8	DisGeNET
Q9H3H5	UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase	DisGeNET
Q9NP73	UDP-N-acetylglucosamine transferase subunit ALG13	Glyco-Disease Genes Database DisGeNET DisGeNET
Q9UNP4	Lactosylceramide alpha-2,3-sialyltransferase	DisGeNET
Q9Y2V7	Conserved oligomeric Golgi complex subunit 6	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 48 in total

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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