Cortical dysplasia, complex, with other brain malformations 10- MedGen UID:
- 1684859
- •Concept ID:
- C5231458
- •
- Disease or Syndrome
Complex cortical dysplasia with other brain malformations-10 (CDCBM10) is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language (summary by Lee et al., 2019).
For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).