Complex Cortical Dysplasia with other Brain Malformations 5

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum.

**Synonyms:** - CDCBM5 - TUBB2A Tubulinopathy