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Preferred Name

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
Synonyms

EIEE59
ID

http://purl.bioontology.org/ontology/OMIM/617904
altLabel

EIEE59

DEE59

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 59
cui

C4693550
Gene Locus

9q22.1
Gene Symbol

GABBR2

GPR51

DEE59

NDPLHS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000695

http://purl.bioontology.org/ontology/OMIM/MTHU047926

http://purl.bioontology.org/ontology/OMIM/MTHU007266

http://purl.bioontology.org/ontology/OMIM/MTHU010506

http://purl.bioontology.org/ontology/OMIM/MTHU039191

http://purl.bioontology.org/ontology/OMIM/MTHU021880

http://purl.bioontology.org/ontology/OMIM/MTHU047747

http://purl.bioontology.org/ontology/OMIM/MTHU037057

http://purl.bioontology.org/ontology/OMIM/MTHU035437

http://purl.bioontology.org/ontology/OMIM/MTHU063758

http://purl.bioontology.org/ontology/OMIM/MTHU055540

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU058081

http://purl.bioontology.org/ontology/OMIM/MTHU028611

http://purl.bioontology.org/ontology/OMIM/MTHU001677

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000939

http://purl.bioontology.org/ontology/OMIM/MTHU012538

http://purl.bioontology.org/ontology/OMIM/MTHU005697

http://purl.bioontology.org/ontology/OMIM/MTHU000197
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

617904
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 59
Scope Statement

Developmental delay apparent from early infancy [MISCELLANEOUS]

Caused by mutation in the gamma-aminobutyric acid B receptor 2 gene (GABBR2, 607340.0004) [MOLECULAR BASIS]

De novo mutation [MISCELLANEOUS]

Seizures are usually refractory [MISCELLANEOUS]

Onset of seizures in the first months of life (range 1.5 to 11 months) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0080291 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0033368 Mondo Disease Ontology / Mondo疾病本体 LOOM