Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615411 http://purl.bioontology.org/ontology/OMIM/615411
Preferred Name	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
Synonyms	CDCBM3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CDCBM3
prefLabel	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3
Gene Symbol	KIF2A CDCBM3
Scope Statement	Caused by mutation in the kinesin heavy chain member 2A (KIF2A, 602591.0001) [MOLECULAR BASIS] Two unrelated patients have been reported (last curated September 2013) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010663 http://purl.bioontology.org/ontology/OMIM/MTHU004041 http://purl.bioontology.org/ontology/OMIM/MTHU036336 http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU037675 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU043840 http://purl.bioontology.org/ontology/OMIM/MTHU044170 http://purl.bioontology.org/ontology/OMIM/MTHU025316 http://purl.bioontology.org/ontology/OMIM/MTHU034961 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	5q12.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615411
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3809414
OMIM Entry Type	3
OMIM MimType Value	pound

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