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congenital disorder of glycosylation Il

Summary

Synonym

congenital disorder of glycosylation 1l

Definition

A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.

Super Class

autosomal recessive disease congenital disorder of glycosylation type I

External Links

Disease Ontology

DOID:0080564

Mondo Disease Ontology

MONDO:0012117

ORDO

79328

OMIM

608776

GARD

9839

Related Genes

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
23545	ATP6V0A2	ATPase H+ transporting V0 subunit a2	DisGeNET
79796	ALG9	ALG9 alpha-1,2-mannosyltransferase	Glyco-Disease Genes Database DisGeNET Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
102580	Alg9	ALG9 alpha-1,2-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
367083	Alg9	ALG9, alpha-1,2-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
43031	Alg9	ALG9, alpha-1,2-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
393598	alg9	ALG9 alpha-1,2-mannosyltransferase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
100497477	alg9	ALG9, alpha-1,2-mannosyltransferase	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108696484	alg9.L	ALG9, alpha-1,2-mannosyltransferase L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
174633	algn-9	Alpha-1,2-mannosyltransferase algn-9	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
855502	ALG9	dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase	Alliance of Genome Resources

Related Glycoprotein

Displaying **all 2** entries
UniProt ID	Protein Name	Source
Q9H6U8	Alpha-1,2-mannosyltransferase ALG9	Glyco-Disease Genes Database DisGeNET
Q9Y487	V-type proton ATPase 116 kDa subunit a 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **105** in total

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HPO ID	HPO Term
HP:0000105	Enlarged kidney
HP:0000126	Hydronephrosis
HP:0000154	Wide mouth
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion
HP:0000248	Brachycephaly
HP:0000253	Progressive microcephaly
HP:0000260	Wide anterior fontanel
HP:0000270	Delayed cranial suture closure
HP:0000308	Microretrognathia