Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615282
http://purl.bioontology.org/ontology/OMIM/615282
Preferred Name

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Synonyms
CDCBM2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
CDCBM2
prefLabel
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2
Gene Symbol
KIF5C
NKHC2
CDCBM2
Scope Statement
Onset in utero or at birth [MISCELLANEOUS]
Caused by mutation in the kinesin family member 5C gene (KIF5C, 604593.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001605
http://purl.bioontology.org/ontology/OMIM/MTHU010663
http://purl.bioontology.org/ontology/OMIM/MTHU004041
http://purl.bioontology.org/ontology/OMIM/MTHU025052
http://purl.bioontology.org/ontology/OMIM/MTHU069606
http://purl.bioontology.org/ontology/OMIM/MTHU020425
http://purl.bioontology.org/ontology/OMIM/MTHU033304
http://purl.bioontology.org/ontology/OMIM/MTHU043841
http://purl.bioontology.org/ontology/OMIM/MTHU034959
http://purl.bioontology.org/ontology/OMIM/MTHU022828
http://purl.bioontology.org/ontology/OMIM/MTHU020547
http://purl.bioontology.org/ontology/OMIM/MTHU003929
http://purl.bioontology.org/ontology/OMIM/MTHU043840
http://purl.bioontology.org/ontology/OMIM/MTHU008360
http://purl.bioontology.org/ontology/OMIM/MTHU030468
http://purl.bioontology.org/ontology/OMIM/MTHU043845
http://purl.bioontology.org/ontology/OMIM/MTHU069607
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
2q23.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615282
Semantic type UMLS property
Has inheritance type
cui
C3809013
OMIM Entry Type
3
OMIM MimType Value
pound
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