Cortical Dysplasia, Complex, with Other Brain Malformations 2

Alternative Names

  • CDCBM2
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

615282

Mode of Inheritance

Autosomal dominant

Gene Map Locus

2q23.1-q23.2

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. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615282.1United Arab EmiratesMaleNoYes Global developmental delay; Seizure; Int...NM_004522.3:c.404A>GHeterozygousAl-Shamsi et al. 2016; Saleh et al. 2021 De novo mutation
© CAGS 2024. All rights reserved.