Complex cortical dysplasia with other brain malformations 2

Definition

Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.

Also known as CDCBM2, complex cortical dysplasia with other brain malformations caused by mutation in KIF5C, complex cortical dysplasia with other brain malformations type 2, cortical dysplasia, Complex, with Other brain malformations type 2, KIF5C complex cortical dysplasia with other brain malformations — per MONDO

Also identified as

• DOID 0090133 per MONDO
• OMIM 615282 per MONDO
• UMLS C3809013 per MONDO