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developmental and epileptic encephalopathy 103

Summary

Synonym

DEE103
early infantile epileptic encephalopathy 103

Definition

A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21.

Super Class

autosomal dominant disease developmental and epileptic encephalopathy

External Links

Disease Ontology

DOID:0070389

Mondo Disease Ontology

MONDO:0030957

OMIM

619913

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
3747	KCNC2	potassium voltage-gated channel subfamily C member 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
268345	Kcnc2	potassium voltage gated channel, Shaw-related subfamily, member 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
246153	Kcnc2	potassium voltage-gated channel subfamily C member 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
33599	Shaw	Shaker cognate w	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 48 in total

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HPO ID	HPO Term
HP:0000648	Optic atrophy
HP:0000504	Abnormality of vision
HP:0000750	Delayed speech and language development
HP:0000348	High forehead
HP:0000708	Atypical behavior
HP:0001250	Seizure
HP:0000546	Retinal degeneration
HP:0000252	Microcephaly
HP:0000668	Hypodontia
HP:0001249	Intellectual disability

Displaying **all 5** entries
Gene ID	Gene Symbol	Description
1759	DNM1	dynamin 1
523	ATP6V1A	ATPase H+ transporting V1 subunit A
781	CACNA2D1	calcium voltage-gated channel auxiliary subunit alpha2delta 1
79947	DHDDS	dehydrodolichyl diphosphate synthase subunit
8867	SYNJ1	synaptojanin 1