Complex cortical dysplasia with other brain malformations 1
Complex cortical dysplasia with other brain malformations 1
Definition
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.
Also known as CDCBM1, complex cortical dysplasia with other brain malformations caused by mutation in TUBB3, complex cortical dysplasia with other brain malformations type 1, cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation, cortical dysplasia, Complex, with Other brain malformations type 1, TUBB3 complex cortical dysplasia with other brain malformations — per MONDO