GlyCosmos Portal

Submissions

developmental and epileptic encephalopathy 2

Summary

Synonym

DEE2
EIEE2
X-linked infantile spasm syndrome 2
early infantile epileptic encephalopathy 2

Definition

A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.

Super Class

X-linked dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology

DOID:0080467

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
6792	CDKL5	cyclin dependent kinase like 5	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
382253	Cdkl5	cyclin dependent kinase like 5	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
O76039	Cyclin-dependent kinase-like 5	Alliance of Genome Resources

Displaying 1 entry
UniProt ID	Protein Name	Source
Q3UTQ8	Cyclin-dependent kinase-like 5	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 95 in total

1

2

3

4

5

…

Next ›

Last »
HPO ID	HPO Term
HP:0000713	Agitation
HP:0000723	Restrictive behavior
HP:0000729	Autistic behavior
HP:0000748	Inappropriate laughter
HP:0000817	Reduced eye contact
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001256	Intellectual disability, mild
HP:0001257	Spasticity

Displaying **all 6** entries
Gene ID	Gene Symbol	Description
51227	PIGP	phosphatidylinositol glycan anchor biosynthesis class P
9091	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q
22854	NTNG1	netrin G1
23236	PLCB1	phospholipase C beta 1
5277	PIGA	phosphatidylinositol glycan anchor biosynthesis class A
6487	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3