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developmental and epileptic encephalopathy

Disease Summary
Associated Targets (80)
Tbio

48

Tclin

17

Tchem

15


GARD Rare
Mondo Description 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.
Disease Ontology Description A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.
Mondo Term and Equivalent IDs
MONDO:0100062:  developmental and epileptic encephalopathy
DOID:2481: 
EFO:1000643: 
GARD:0009255: 
NCIT:C122814: 
OMIMPS:308350: 
Orphanet:1934: 
SCTID:230429005: