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Standards Ontologies Notations
developmental and epileptic encephalopathy 11

Summary
Synonym
  • DEE11
  • early infantile epileptic encephalopathy 11
Definition
A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24.
Super Class
autosomal dominant disease developmental and epileptic encephalopathy
Disease Ontology
DOID:0080421
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6326 SCN2A sodium voltage-gated channel alpha subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
110876 Scn2a sodium channel, voltage-gated, type II, alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
24766 Scn2a sodium voltage-gated channel alpha subunit 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
32619 para paralytic
The Human Phenotype Ontology
Displaying entries 1 - 10 of 53 in total
HPO ID HPO Term
HP:0000054 Micropenis
HP:0000070 Ureterocele
HP:0000110 Renal dysplasia
HP:0000175 Cleft palate
HP:0000252 Microcephaly
HP:0000340 Sloping forehead
HP:0000463 Anteverted nares
HP:0000486 Strabismus
HP:0000729 Autistic behavior
HP:0000752 Hyperactivity
Displaying all 2 entries
Gene ID Gene Symbol Description
51227 PIGP phosphatidylinositol glycan anchor biosynthesis class P
9091 PIGQ phosphatidylinositol glycan anchor biosynthesis class Q
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024