Cortical Dysplasia, Complex, with other Brain Malformations 1

Alternative Names

  • CDCBM1

Associated Genes

Tubulin, Beta-3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

614039

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16q24.3

Description

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

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614039.1JordanMaleNoYes Intellectual disability; Microcephaly; C...NM_006086.4:c.136C>THeterozygousAutosomal, DominantFroukh. 2017 de novo mutation
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