Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618663
http://purl.bioontology.org/ontology/OMIM/618663
Preferred Name

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
Synonyms
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
EIEE81
DEE81
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 81
EIEE81
DEE81
prefLabel
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
Gene Symbol
DMXL2
RC3
KIAA0856
PEPNS
DFNA71
DEE81
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Scope Statement
Death in childhood (in some patients) [MISCELLANEOUS]
Caused by mutation in the DMX-like 2 gene (DMXL2, 612186.0003) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
Onset soon after birth [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU066632
http://purl.bioontology.org/ontology/OMIM/MTHU061262
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU010738
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU003365
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU059378
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU002153
http://purl.bioontology.org/ontology/OMIM/MTHU066634
http://purl.bioontology.org/ontology/OMIM/MTHU000579
http://purl.bioontology.org/ontology/OMIM/MTHU049259
http://purl.bioontology.org/ontology/OMIM/MTHU031580
http://purl.bioontology.org/ontology/OMIM/MTHU004589
http://purl.bioontology.org/ontology/OMIM/MTHU038030
http://purl.bioontology.org/ontology/OMIM/MTHU001673
http://purl.bioontology.org/ontology/OMIM/MTHU002108
http://purl.bioontology.org/ontology/OMIM/MTHU061039
http://purl.bioontology.org/ontology/OMIM/MTHU021458
http://purl.bioontology.org/ontology/OMIM/MTHU070783
http://purl.bioontology.org/ontology/OMIM/MTHU029059
http://purl.bioontology.org/ontology/OMIM/MTHU066631
http://purl.bioontology.org/ontology/OMIM/MTHU028611
http://purl.bioontology.org/ontology/OMIM/MTHU025802
http://purl.bioontology.org/ontology/OMIM/MTHU000700
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU001056
http://purl.bioontology.org/ontology/OMIM/MTHU066633
http://purl.bioontology.org/ontology/OMIM/MTHU000094
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tui
T047
Gene Locus
15q21.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618663
Semantic type UMLS property
Has inheritance type
cui
C5231450
OMIM Entry Type
3
OMIM MimType Value
pound
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