Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/620149
http://purl.bioontology.org/ontology/OMIM/620149
Preferred Name

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
Synonyms
DEE110
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
DEE110
prefLabel
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
Gene Symbol
CACNA2
DEE110
CACNL2A
CACNA2D1
Scope Statement
Onset in infancy [MISCELLANEOUS]
Two unrelated patients have been reported (last curated December 2022) [MISCELLANEOUS]
Caused by mutation in the calcium channel, voltage-dependent, alpha2/delta subunit 1 (CACNA2D1, 114204.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU057831
http://purl.bioontology.org/ontology/OMIM/MTHU066883
http://purl.bioontology.org/ontology/OMIM/MTHU040063
http://purl.bioontology.org/ontology/OMIM/MTHU001452
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU010568
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU034226
http://purl.bioontology.org/ontology/OMIM/MTHU061712
http://purl.bioontology.org/ontology/OMIM/MTHU007254
http://purl.bioontology.org/ontology/OMIM/MTHU000512
http://purl.bioontology.org/ontology/OMIM/MTHU002905
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU051557
http://purl.bioontology.org/ontology/OMIM/MTHU000695
http://purl.bioontology.org/ontology/OMIM/MTHU010284
http://purl.bioontology.org/ontology/OMIM/MTHU012538
http://purl.bioontology.org/ontology/OMIM/MTHU002602
http://purl.bioontology.org/ontology/OMIM/MTHU007279
http://purl.bioontology.org/ontology/OMIM/MTHU006930
http://purl.bioontology.org/ontology/OMIM/MTHU076378
http://purl.bioontology.org/ontology/OMIM/MTHU028611
http://purl.bioontology.org/ontology/OMIM/MTHU036693
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU042911
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU037031
http://purl.bioontology.org/ontology/OMIM/MTHU000235
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
7q21-q22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
620149
Semantic type UMLS property
Has inheritance type
cui
C5774265
OMIM Entry Type
3
OMIM MimType Value
pound
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