Orphanet: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Disease definition

A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.3
  • OMIM: 614039
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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