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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 **31 - 40** of 55 in total

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HPO ID	HPO Term
HP:0002069	Bilateral tonic-clonic seizure
HP:0002079	Hypoplasia of the corpus callosum
HP:0002121	Generalized non-motor (absence) seizure
HP:0002131	Episodic ataxia
HP:0002353	EEG abnormality
HP:0002360	Sleep abnormality
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002421	Poor head control
HP:0002506	Diffuse cerebral atrophy
HP:0005280	Depressed nasal bridge

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