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developmental and epileptic encephalopathy 30

Summary

Synonym

DEE30
early infantile epileptic encephalopathy 30

Definition

A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22.

Super Class

autosomal dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology: DOID:0080465

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
150094	SIK1	salt inducible kinase 1	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
P57059	Serine/threonine-protein kinase SIK1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **41 - 50** of 55 in total

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HPO ID	HPO Term
HP:0007204	Diffuse white matter abnormalities
HP:0007359	Focal-onset seizure
HP:0008947	Infantile muscular hypotonia
HP:0009381	Short finger
HP:0010174	Broad phalanx of the toes
HP:0010818	Generalized tonic seizure
HP:0010819	Atonic seizure
HP:0010850	EEG with spike-wave complexes
HP:0010851	EEG with burst suppression
HP:0011169	Generalized clonic seizure

Displaying **all 5** entries
Gene ID	Gene Symbol	Description
51227	PIGP	phosphatidylinositol glycan anchor biosynthesis class P
9091	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q
23236	PLCB1	phospholipase C beta 1
5277	PIGA	phosphatidylinositol glycan anchor biosynthesis class A
6487	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3