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developmental and epileptic encephalopathy 15

Summary

Synonym

DEE15
early infantile epileptic encephalopathy 15

Definition

A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34.

Super Class

autosomal recessive disease developmental and epileptic encephalopathy

External Links

Disease Ontology: DOID:0080414

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
6487	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
Q11203	CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 20 in total

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HPO ID	HPO Term
HP:0000707	Abnormality of the nervous system
HP:0001336	Myoclonus
HP:0012469	Infantile spasms
HP:0011121	Abnormal skin morphology
HP:0002376	Developmental regression
HP:0002521	Hypsarrhythmia
HP:0000007	Autosomal recessive inheritance
HP:0000737	Irritability
HP:0200134	Epileptic encephalopathy
HP:0001252	Hypotonia

Displaying **all 3** entries
Gene ID	Gene Symbol	Description
6487	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3
5277	PIGA	phosphatidylinositol glycan anchor biosynthesis class A
23236	PLCB1	phospholipase C beta 1