Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615744
http://purl.bioontology.org/ontology/OMIM/615744
Preferred Name

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
Synonyms
DEE19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EIEE19
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DEE19
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19
EIEE19
prefLabel
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
Gene Symbol
ECA4
GABRA1
DEE19
EJM5
Scope Statement
Seizures are fever-sensitive [MISCELLANEOUS]
Caused by mutation in the gamma-aminobutyric acid receptor, alpha-1 gene (137160.0003) [MOLECULAR BASIS]
Onset of seizures between 8 and 11 months of age [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU051715
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU021299
http://purl.bioontology.org/ontology/OMIM/MTHU000302
http://purl.bioontology.org/ontology/OMIM/MTHU035437
http://purl.bioontology.org/ontology/OMIM/MTHU033432
http://purl.bioontology.org/ontology/OMIM/MTHU000088
http://purl.bioontology.org/ontology/OMIM/MTHU002883
http://purl.bioontology.org/ontology/OMIM/MTHU019570
http://purl.bioontology.org/ontology/OMIM/MTHU046871
http://purl.bioontology.org/ontology/OMIM/MTHU028611
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU046869
http://purl.bioontology.org/ontology/OMIM/MTHU046868
http://purl.bioontology.org/ontology/OMIM/MTHU004607
http://purl.bioontology.org/ontology/OMIM/MTHU046381
http://purl.bioontology.org/ontology/OMIM/MTHU021298
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tui
T047
Gene Locus
5q34-q35
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615744
Semantic type UMLS property
Has inheritance type
cui
C3810400
OMIM Entry Type
3
OMIM MimType Value
pound
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