has material basis in germline mutation in TUBB2A complex cortical dysplasia with other brain malformations complex cortical dysplasia with other brain malformations 5 https://github.com/monarch-initiative/mondo/issues/9748 https://www.malacards.org/card/cortical_dysplasia_complex_with_other_brain_malformations_5 cortical dysplasia, complex, with other brain malformations 5 complex cortical dysplasia with other brain malformations type 5 Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene. TUBB2A-related tubulinopathy cortical dysplasia, Complex, with Other brain malformations type 5 OMIM:615763 CDCBM5 UMLS:C3810407 GARD:0027859 TUBB2A complex cortical dysplasia with other brain malformations DOID:0090135 complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A MONDO:0014337 MEDGEN:816737 A tubulinopathy syndrome often associated with microtubule dysfunction, malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter, due to heterozygous variants in TUBB2A. Individuals may present with variable combinations of malformations of the corpus callosum, enlarged ventricles, dysgyria, abnormal basal ganglia, cerebellar vermis hypoplasia/dysplasia, and decreased white matter. Epilepsy, speech impairment, and motor impairment are also frequent features. tubulinopathy Mendelian neurodevelopmental disorder complex neurodevelopmental disorder with motor features