Cortical Dysplasia, Complex, with other Brain Malformations 1

Alternative Names

  • CDCBM1

Associated Genes

Tubulin, Beta-3
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number


Mode of Inheritance

Autosomal dominant

Gene Map Locus



Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have mild to severe mental retardation, strabismus, axial hypotonia, and spasticity. Brain imaging shows variable malformations of cortical development, including polymicrogyria, gyral disorganization, and fusion of the basal ganglia, as well as thin corpus callosum, hypoplastic brainstem, and dysplastic cerebellar vermis. Extraocular muscles are not involved. Mutation in the TUBB3 gene can also cause congenital fibrosis of extraocular muscles-3A, a milder and somewhat different neurologic phenotype. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614039.1JordanMaleNoYes Intellectual disability; Microcephaly; C...NM_006086.4:c.136C>THeterozygousAutosomal, DominantFroukh. 2017 de novo mutation
© CAGS 2024. All rights reserved.