Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation?

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