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developmental and epileptic encephalopathy

^ http://purl.obolibrary.org/obo/MONDO_0100062

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity. [ PMID:28276062 ]

Term info

database cross reference
  • GARD:0009255 (MONDO:equivalentTo)
  • EFO:1000643 (MONDO:equivalentTo)
  • OMIMPS:308350 (MONDO:pnr)
  • MedDRA:10071545 (Orphanet:1934/e)
  • ICD9:345.10 (MONDO:relatedTo)
  • DOID:0050709 (MONDO:equivalentTo)
  • Orphanet:1934 (MONDO:equivalentTo)
  • ICD9:345.6 (DOID:2481)
  • SCTID:28055006 (MONDO:directSiblingOf)
  • SCTID:230429005 (MONDO:equivalentTo)
  • NCIT:C122814 (MONDO:equivalentTo)
  • DOID:0112202 (MONDO:equivalentTo)
  • UMLS:C0037769 (MONDO:directSiblingOf)
  • NCIT:C84788 (MONDO:directSiblingOf)
  • DOID:2481 (MONDO:equivalentObsolete)
Subsets

ordo_clinical_syndrome, clingen

abbreviation
EIEE [ Orphanet:1934 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3680

closeMatch

http://identifiers.org/meddra/10071545

comment

Individuals, both male and female, have been reported with variants in the GABRB3 gene. De novo and familial cases have been reported, with mostly missense and a few nonsense variants identified as causative. These patients have been described in the literature as having a range of phenotypes characterized as epileptic encephalopathy, Lennox-Gastaut syndrome, Dravet syndrome-like, and childhood absence epilepsy. Severity of intellectual disability is variable among reported probands, as is the age of onset of seizure phenotypes. In one case of epileptic encephalopathy, for example, the individual presented with severe intellectual disability while seizures onset at 12 years old. Additionally, individuals have been reported with the same de novo missense variants, and have been described with varying phenotypes.

creator

https://orcid.org/0000-0001-5208-3432

date

2018-10-10T22:04:15Z

definition

A complex neurodevelopmental disorder characterized by a range of developmental delays and epileptic encephalopathy phenotypes. Seizure onset is variable and intellectual disability is variable in presence and severity.

exactMatch

http://identifiers.org/snomedct/230429005, http://purl.obolibrary.org/obo/NCIT_C122814, http://purl.obolibrary.org/obo/DOID_0050709, http://purl.obolibrary.org/obo/DOID_0112202, http://purl.obolibrary.org/obo/Orphanet_1934, https://omim.org/phenotypicSeries/PS308350

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015921

has exact synonym

epileptic encephalopathy, infantile, developmental and epileptic encephalopathy, early infantile epileptic encephalopathy with burst-suppression, EIEE, DEE, infantile epileptic encephalopathy, Ohtahara syndrome, epileptic encephalopathy, early infantile, early infantile epileptic encephalopathy with suppression-bursts, early infantile epileptic encephalopathy, infantile spasm

id

MONDO:0100062