Complex cortical dysplasia with other brain malformations 5
Complex cortical dysplasia with other brain malformations 5
Definition
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.
Also known as CDCBM5, complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A, complex cortical dysplasia with other brain malformations type 5, cortical dysplasia, Complex, with Other brain malformations type 5, TUBB2A complex cortical dysplasia with other brain malformations, TUBB2A-related tubulinopathy — per MONDO